TIS in the News The journey to a treatment for hereditary spastic paraplegia Read more about hereditary spastic paraplegia in the answers blog From bench to bedside: A promising option for unremitting ulcerative colitis Read more about ulcerative colitis in the answers blog Publications The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy; Aug 29, 2025; pubmed:40880844. View The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy on PubMed IgM and IgG1 B cell receptors differentially affect B cell fates and dictate the pathogenesis of mature B cell lymphomas; Aug 29, 2025; pubmed:40880486. View IgM and IgG1 B cell receptors differentially affect B cell fates and dictate the pathogenesis of mature B cell lymphomas on PubMed Comparative DNA Methylation Profiling of Human and Murine ALK-Positive B-Cell Neoplasms; Aug 29, 2025; pubmed:40879321. View Comparative DNA Methylation Profiling of Human and Murine ALK-Positive B-Cell Neoplasms on PubMed Pediatric Liver Transplant: Anatomic, Imaging, and Surgical Considerations-A Report of the Pediatric LI-RADS Working Group, From the <em>AJR</em> Special Series on Critical Anatomy; Aug 27, 2025; pubmed:40864992. View Pediatric Liver Transplant: Anatomic, Imaging, and Surgical Considerations-A Report of the Pediatric LI-RADS Working Group, From the <em>AJR</em> Special Series on Critical Anatomy on PubMed Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change; Aug 26, 2025; pubmed:40858311. View Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change on PubMed Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs; Aug 26, 2025; pubmed:40858310. View Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs on PubMed Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome; Aug 26, 2025; pubmed:40858309. View Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome on PubMed Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints; Aug 26, 2025; pubmed:40858308. View Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints on PubMed Longitudinal Trajectory of Adaptive Skills in Phelan-McDermid Syndrome; Aug 26, 2025; pubmed:40858307. View Longitudinal Trajectory of Adaptive Skills in Phelan-McDermid Syndrome on PubMed The Case for the Pediatric Cardiologist-Informaticist; Aug 26, 2025; pubmed:40856790. View The Case for the Pediatric Cardiologist-Informaticist on PubMed Longitudinal Antibody Responses to SARS-CoV-2 Infection in Children: Impact of Age, Vaccines and Symptoms; Aug 26, 2025; pubmed:40856606. View Longitudinal Antibody Responses to SARS-CoV-2 Infection in Children: Impact of Age, Vaccines and Symptoms on PubMed Directed evolution-based discovery of ligands for in vivo restimulation of chimeric antigen receptor T cells; Aug 25, 2025; pubmed:40855124. View Directed evolution-based discovery of ligands for in vivo restimulation of chimeric antigen receptor T cells on PubMed A Cadaveric Study Evaluating the Feasibility of the Amplatzer Septal Occluder for Skull Base Reconstruction in Endoscopic Endonasal Surgery: Can Occluders Offer a Viable Alternative for Skull Base Repair?; Aug 25, 2025; pubmed:40853148. View A Cadaveric Study Evaluating the Feasibility of the Amplatzer Septal Occluder for Skull Base Reconstruction in Endoscopic Endonasal Surgery: Can Occluders Offer a Viable Alternative for Skull Base Repair? on PubMed Ultra-Low-Cost Homemade Reusable Tumor Resection Model With Realistic Haptic Feedback and Photograph-Based Navigation for Neurosurgical Training; Aug 25, 2025; pubmed:40853124. View Ultra-Low-Cost Homemade Reusable Tumor Resection Model With Realistic Haptic Feedback and Photograph-Based Navigation for Neurosurgical Training on PubMed Missed Opportunities: Single Center Insights into Prenatal Cardiac Palliative Care; Aug 23, 2025; pubmed:40848755. View Missed Opportunities: Single Center Insights into Prenatal Cardiac Palliative Care on PubMed Genome-Wide Association Study and Rare Variant Association Studies of Strabismus in the <em>All of Us</em> Research Program; Aug 21, 2025; pubmed:40837069. View Genome-Wide Association Study and Rare Variant Association Studies of Strabismus in the <em>All of Us</em> Research Program on PubMed Low temperature-driven physiological responses in ballan wrasse (Labrus bergylta): Stress, inflammation, and liver health; Aug 20, 2025; pubmed:40835126. View Low temperature-driven physiological responses in ballan wrasse (Labrus bergylta): Stress, inflammation, and liver health on PubMed Epigenetic changes by EZH2 inhibition increase translocations in B cells with high AID activity or DNA repair deficiency; Aug 18, 2025; pubmed:40825195. View Epigenetic changes by EZH2 inhibition increase translocations in B cells with high AID activity or DNA repair deficiency on PubMed Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients; Aug 14, 2025; pubmed:40811633. View Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients on PubMed Phenome-wide association study of monogenic inflammatory bowel disease genes in diverse biobanks identifies population-specific and shared Goldilocks alleles: implications for Precision Medicine; Aug 13, 2025; pubmed:40802484. View Phenome-wide association study of monogenic inflammatory bowel disease genes in diverse biobanks identifies population-specific and shared Goldilocks alleles: implications for Precision Medicine on PubMed TBX5 and CHD4 Coordinately Activate Atrial Cardiomyocyte Genes to Maintain Cardiac Rhythm Homeostasis; Aug 13, 2025; pubmed:40799140. View TBX5 and CHD4 Coordinately Activate Atrial Cardiomyocyte Genes to Maintain Cardiac Rhythm Homeostasis on PubMed mTORC1-selective inhibitors rescue cellular phenotypes in TSC iPSC-derived neurons; Aug 12, 2025; pubmed:40792287. View mTORC1-selective inhibitors rescue cellular phenotypes in TSC iPSC-derived neurons on PubMed Clinical characteristics, mid-term outcomes and management of asymptomatic primary hyperparathyroidism: A multicentre retrospective cohort study; Aug 11, 2025; pubmed:40790100. View Clinical characteristics, mid-term outcomes and management of asymptomatic primary hyperparathyroidism: A multicentre retrospective cohort study on PubMed The Impact of Inhaled Corticosteroids on Lung Inflammation and Clinical Outcomes in Children with Oropharyngeal Dysphagia; Aug 9, 2025; pubmed:40783047. View The Impact of Inhaled Corticosteroids on Lung Inflammation and Clinical Outcomes in Children with Oropharyngeal Dysphagia on PubMed Implementing a context-augmented large language model to guide precision cancer medicine; Aug 8, 2025; pubmed:40778147. View Implementing a context-augmented large language model to guide precision cancer medicine on PubMed An open-source pipeline for calcium imaging and all-optical physiology in human stem cell-derived neurons; Aug 8, 2025; pubmed:40777501. View An open-source pipeline for calcium imaging and all-optical physiology in human stem cell-derived neurons on PubMed Developmental Trajectories of Adaptive Functioning and Behavior Problems in Children With Co-Occurring Tuberous Sclerosis Complex and Autism Spectrum Disorder, With and Without Seizures; Aug 7, 2025; pubmed:40774147. View Developmental Trajectories of Adaptive Functioning and Behavior Problems in Children With Co-Occurring Tuberous Sclerosis Complex and Autism Spectrum Disorder, With and Without Seizures on PubMed The impact of patient position changes on advanced hemodynamic indices in laparoscopic and open major abdominal cancer surgeries: retrospective study; Aug 7, 2025; pubmed:40770328. View The impact of patient position changes on advanced hemodynamic indices in laparoscopic and open major abdominal cancer surgeries: retrospective study on PubMed Molecular Mechanisms of Cardiomyocyte Aging; Aug 6, 2025; pubmed:40766565. View Molecular Mechanisms of Cardiomyocyte Aging on PubMed Novel structural variant in <em>CACNA1F</em> causing congenital stationary night blindness identified with whole genome sequencing; Jul 31, 2025; pubmed:40744901. View Novel structural variant in <em>CACNA1F</em> causing congenital stationary night blindness identified with whole genome sequencing on PubMed Growth of the Fontan pathway and its association with long-term outcomes; Jul 31, 2025; pubmed:40744160. View Growth of the Fontan pathway and its association with long-term outcomes on PubMed Central Dysmyelination in SSADH-Deficient Humans and Mice; Jul 31, 2025; pubmed:40741980. View Central Dysmyelination in SSADH-Deficient Humans and Mice on PubMed The Effects of Tea Wastes Prepared Using Different Composting Methods on the Seedling Growth and Selected Biochemical Properties of Maize (<em>Zea mays</em> var. <em>indurata</em>); Jul 31, 2025; pubmed:40741096. View The Effects of Tea Wastes Prepared Using Different Composting Methods on the Seedling Growth and Selected Biochemical Properties of Maize (<em>Zea mays</em> var. <em>indurata</em>) on PubMed Moiré-Induced Enhanced Hydrogen Adsorption on Graphene; Jul 28, 2025; pubmed:40717446. View Moiré-Induced Enhanced Hydrogen Adsorption on Graphene on PubMed Development and Adaptive Function in Individuals With <em>SCN2A</em>-Related Disorders; Jul 22, 2025; pubmed:40694750. View Development and Adaptive Function in Individuals With <em>SCN2A</em>-Related Disorders on PubMed Vitamin D deficiency and surgical cellulose mimicking parathyroid adenoma after initial parathyroidectomy; Jul 21, 2025; pubmed:40686699. View Vitamin D deficiency and surgical cellulose mimicking parathyroid adenoma after initial parathyroidectomy on PubMed Investigation of the relationship between the triglyceride-glucose index and metabolic and hematological parameters in obese individuals; Jul 21, 2025; pubmed:40686695. View Investigation of the relationship between the triglyceride-glucose index and metabolic and hematological parameters in obese individuals on PubMed Epigenetic silencing of interleukin-10 by host-derived oxidized phospholipids supports a lethal inflammatory response to infections; Jul 18, 2025; pubmed:40680750. View Epigenetic silencing of interleukin-10 by host-derived oxidized phospholipids supports a lethal inflammatory response to infections on PubMed Classification and Comparison of Eight Different Growth Curve Methods for Pekin Duck; Jul 18, 2025; pubmed:40677116. View Classification and Comparison of Eight Different Growth Curve Methods for Pekin Duck on PubMed Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs; Jul 17, 2025; pubmed:40674414. View Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs on PubMed <em>In cellulo</em> DNA assembly for targeted genomic integration and rearrangement in human cells; Jul 16, 2025; pubmed:40667027. View <em>In cellulo</em> DNA assembly for targeted genomic integration and rearrangement in human cells on PubMed A collection of patient-derived intestinal organoid lines reveals epithelial phenotypes associated with genetic drivers of pediatric inflammatory bowel disease; Jul 16, 2025; pubmed:40666956. View A collection of patient-derived intestinal organoid lines reveals epithelial phenotypes associated with genetic drivers of pediatric inflammatory bowel disease on PubMed Systematic phenotype and genotype characterization of Moebius syndrome; Jul 15, 2025; pubmed:40662098. View Systematic phenotype and genotype characterization of Moebius syndrome on PubMed Structural Identification of Major Molecular Determinants for Phosphotyrosine Recognition in Tyrosine Kinases Reveals Tumour Promoting and Suppressive Functions; Jul 15, 2025; pubmed:40661594. View Structural Identification of Major Molecular Determinants for Phosphotyrosine Recognition in Tyrosine Kinases Reveals Tumour Promoting and Suppressive Functions on PubMed Finding buried genetic test results in the electronic health record is inefficient and variable across institutions; Jul 14, 2025; pubmed:40657271. View Finding buried genetic test results in the electronic health record is inefficient and variable across institutions on PubMed Disrupted Motor Neuron and Neuromuscular Junction Development in an Albino Mice Model of Infantile Nystagmus; Jul 10, 2025; pubmed:40637510. View Disrupted Motor Neuron and Neuromuscular Junction Development in an Albino Mice Model of Infantile Nystagmus on PubMed Electroencephalogram (EEG) Spike Metrics Discriminate Impending Epileptic Spasms From Other Seizures in Children With Tuberous Sclerosis Complex: A Pilot Study; Jul 8, 2025; pubmed:40625144. View Electroencephalogram (EEG) Spike Metrics Discriminate Impending Epileptic Spasms From Other Seizures in Children With Tuberous Sclerosis Complex: A Pilot Study on PubMed Baseline terminal ileal CT and MRI measurements are associated with imaging outcomes in pediatric Crohn's disease: a cohort study; Jul 3, 2025; pubmed:40608115. View Baseline terminal ileal CT and MRI measurements are associated with imaging outcomes in pediatric Crohn's disease: a cohort study on PubMed Extension of replicative lifespan by synthetic engineered telomerase RNA in patient induced pluripotent stem cells; Jun 27, 2025; pubmed:40579489. View Extension of replicative lifespan by synthetic engineered telomerase RNA in patient induced pluripotent stem cells on PubMed Predictive Value of R<sub>2</sub>CHA<sub>2</sub>DS<sub>2</sub>-VA Score for 90-Day Functional Outcomes After Endovascular Thrombectomy in Acute Ischemic Stroke; Jun 27, 2025; pubmed:40572687. View Predictive Value of R<sub>2</sub>CHA<sub>2</sub>DS<sub>2</sub>-VA Score for 90-Day Functional Outcomes After Endovascular Thrombectomy in Acute Ischemic Stroke on PubMed Type 1 laryngeal clefts - Which patients can be managed medically? A retrospective cohort study; Jun 26, 2025; pubmed:40570586. View Type 1 laryngeal clefts - Which patients can be managed medically? A retrospective cohort study on PubMed Novel <em>Klebsiella pneumoniae</em> and <em>Pseudomonas aeruginosa</em> MAPS vaccine combining O polysaccharides and pathogen-specific proteins; Jun 26, 2025; pubmed:40569061. View Novel <em>Klebsiella pneumoniae</em> and <em>Pseudomonas aeruginosa</em> MAPS vaccine combining O polysaccharides and pathogen-specific proteins on PubMed Disruption of Microhomology-mediated End-joining in Ewing Sarcoma; Jun 26, 2025; pubmed:40568108. View Disruption of Microhomology-mediated End-joining in Ewing Sarcoma on PubMed A novel brain tumor magnetic resonance imaging dataset (Gazi Brains 2020): initial benchmark results and comprehensive analysis; Jun 26, 2025; pubmed:40567687. View A novel brain tumor magnetic resonance imaging dataset (Gazi Brains 2020): initial benchmark results and comprehensive analysis on PubMed Human Bone-Derived Endothelial Cells Mediate Bone Regeneration via Distinct Expression of KIT Ligand; Jun 23, 2025; pubmed:40549883. View Human Bone-Derived Endothelial Cells Mediate Bone Regeneration via Distinct Expression of KIT Ligand on PubMed Adjuvant conditioning shapes the adaptive immune response promoting immunotolerance via NLRP3/interleukin-1; Jun 18, 2025; pubmed:40530419. View Adjuvant conditioning shapes the adaptive immune response promoting immunotolerance via NLRP3/interleukin-1 on PubMed Vigabatrin-associated brain abnormalities on MRI (VABAM) in children with epileptic spasms; Jun 17, 2025; pubmed:40527948. View Vigabatrin-associated brain abnormalities on MRI (VABAM) in children with epileptic spasms on PubMed Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome; Jun 16, 2025; pubmed:40519070. View Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome on PubMed Rapid generation of functional vascular organoids via simultaneous transcription factor activation of endothelial and mural lineages; Jun 14, 2025; pubmed:40516530. View Rapid generation of functional vascular organoids via simultaneous transcription factor activation of endothelial and mural lineages on PubMed Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsyciatric Disorders Checklist (TAND-SQ); Jun 13, 2025; pubmed:40514711. View Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsyciatric Disorders Checklist (TAND-SQ) on PubMed The drug-elicitable alternative splicing module for tunable vector expression in the heart; Jun 13, 2025; pubmed:40514436. View The drug-elicitable alternative splicing module for tunable vector expression in the heart on PubMed N-Acetyl-l-Leucine for Niemann-Pick Type C: Cautious Optimism for an Expanded Treatment Toolkit; Jun 13, 2025; pubmed:40513056. View N-Acetyl-l-Leucine for Niemann-Pick Type C: Cautious Optimism for an Expanded Treatment Toolkit on PubMed Do LLMs Have 'the Eye' for MRI? Evaluating GPT-4o, Grok, and Gemini on Brain MRI Performance: First Evaluation of Grok in Medical Imaging and a Comparative Analysis; Jun 13, 2025; pubmed:40506892. View Do LLMs Have 'the Eye' for MRI? Evaluating GPT-4o, Grok, and Gemini on Brain MRI Performance: First Evaluation of Grok in Medical Imaging and a Comparative Analysis on PubMed Cutaneous immune cell levels in patients with hard-to-heal wounds after maggot therapy and surgical debridement therapy; Jun 12, 2025; pubmed:40504398. View Cutaneous immune cell levels in patients with hard-to-heal wounds after maggot therapy and surgical debridement therapy on PubMed Enhancing Wnt signaling lowers fracture incidence in a severe mouse model of Osteogenesis Imperfecta; Jun 12, 2025; pubmed:40501669. View Enhancing Wnt signaling lowers fracture incidence in a severe mouse model of Osteogenesis Imperfecta on PubMed An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q; Jun 11, 2025; pubmed:40498353. View An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q on PubMed The effect of COVID-19 (SARS-CoV-2) vaccines on vulvar condylomata; Jun 11, 2025; pubmed:40495551. View The effect of COVID-19 (SARS-CoV-2) vaccines on vulvar condylomata on PubMed Pioneer factor ETV2 safeguards endothelial cell specification by recruiting the repressor REST to restrict alternative lineage commitment; Jun 10, 2025; pubmed:40495012. View Pioneer factor ETV2 safeguards endothelial cell specification by recruiting the repressor REST to restrict alternative lineage commitment on PubMed AKT-mediated phosphorylation of TSC2 controls stimulus- and tissue-specific mTORC1 signaling and organ growth; Jun 6, 2025; pubmed:40480230. View AKT-mediated phosphorylation of TSC2 controls stimulus- and tissue-specific mTORC1 signaling and organ growth on PubMed CC180 clade dynamics do not universally explain Streptococcus pneumoniae serotype 3 persistence post-vaccine: a global comparative population genomics study; Jun 5, 2025; pubmed:40472804. View CC180 clade dynamics do not universally explain Streptococcus pneumoniae serotype 3 persistence post-vaccine: a global comparative population genomics study on PubMed Risk of Recurrence and Long-Term Outcomes of Ectopic Atrial Tachycardia After Surgery for Congenital Heart Disease; Jun 3, 2025; pubmed:40457882. View Risk of Recurrence and Long-Term Outcomes of Ectopic Atrial Tachycardia After Surgery for Congenital Heart Disease on PubMed Elevated Plasma Neurofilament Light Chain Levels in Children with Infantile-Onset Ascending Hereditary Spastic Paralysis; May 29, 2025; pubmed:40439044. View Elevated Plasma Neurofilament Light Chain Levels in Children with Infantile-Onset Ascending Hereditary Spastic Paralysis on PubMed SCIG: Machine learning uncovers cell identity genes in single cells by genetic sequence codes; May 28, 2025; pubmed:40433981. View SCIG: Machine learning uncovers cell identity genes in single cells by genetic sequence codes on PubMed Donor artery in coronary total occlusion recanalization: QFR versus FFR; May 26, 2025; pubmed:40417345. View Donor artery in coronary total occlusion recanalization: QFR versus FFR on PubMed Symptomatic management of pediatric dystonia: A call for multidisciplinary, individualized palliative care; May 22, 2025; pubmed:40404518. View Symptomatic management of pediatric dystonia: A call for multidisciplinary, individualized palliative care on PubMed Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption; May 16, 2025; pubmed:40379786. View Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption on PubMed HPDL Variant Type Correlates With Clinical Disease Onset and Severity; May 14, 2025; pubmed:40368591. View HPDL Variant Type Correlates With Clinical Disease Onset and Severity on PubMed Advancement of an automatic segmentation pipeline for metallic artifact removal in post-surgical ACL MRI; May 10, 2025; pubmed:40348296. View Advancement of an automatic segmentation pipeline for metallic artifact removal in post-surgical ACL MRI on PubMed A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes; May 6, 2025; pubmed:40326536. View A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes on PubMed Response by Bortolin and Pu to Letter Regarding Article, "Antisense Oligonucleotide Therapy for Calmodulinopathy"; May 5, 2025; pubmed:40324028. View Response by Bortolin and Pu to Letter Regarding Article, "Antisense Oligonucleotide Therapy for Calmodulinopathy" on PubMed Evolving hemodynamics in Fontan circulation: age-driven insights in patients with interrupted inferior vena cava and hepatoazygos shunt; May 5, 2025; pubmed:40323666. View Evolving hemodynamics in Fontan circulation: age-driven insights in patients with interrupted inferior vena cava and hepatoazygos shunt on PubMed Adjunctive Corticosteroids for Hypotension in the Pediatric Cardiac ICU: Single-Center Retrospective Study, 2020-2021; May 1, 2025; pubmed:40310269. View Adjunctive Corticosteroids for Hypotension in the Pediatric Cardiac ICU: Single-Center Retrospective Study, 2020-2021 on PubMed Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns; Apr 30, 2025; pubmed:40307697. View Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns on PubMed Ten-Year Trends in Pharmacologic Management of Gastroesophageal Reflux Disease and Pediatric Feeding Disorders in Young Children; Apr 29, 2025; pubmed:40300664. View Ten-Year Trends in Pharmacologic Management of Gastroesophageal Reflux Disease and Pediatric Feeding Disorders in Young Children on PubMed Expert recommendations to standardize transcriptomic analysis in inflammatory bowel disease clinical trials; Apr 28, 2025; pubmed:40295219. View Expert recommendations to standardize transcriptomic analysis in inflammatory bowel disease clinical trials on PubMed Prevalence, Characteristics, and Management of Pancreatic Tumors Among Children With Tuberous Sclerosis Complex; Apr 26, 2025; pubmed:40286870. View Prevalence, Characteristics, and Management of Pancreatic Tumors Among Children With Tuberous Sclerosis Complex on PubMed Downregulation of rRNA synthesis by BCL-2 induces chemoresistance in diffuse large B cell lymphoma; Apr 25, 2025; pubmed:40276769. View Downregulation of rRNA synthesis by BCL-2 induces chemoresistance in diffuse large B cell lymphoma on PubMed Heavy metal exposures in aerodigestive clinic cohort of infants with reflux or dysphagia; Apr 24, 2025; pubmed:40269050. View Heavy metal exposures in aerodigestive clinic cohort of infants with reflux or dysphagia on PubMed ap4b1 -/- zebrafish demonstrate morphological and motor abnormalities; Apr 23, 2025; pubmed:40267240. View ap4b1 -/- zebrafish demonstrate morphological and motor abnormalities on PubMed Translational insights into statin-induced myotoxicity: Differential impact of lipophilic and hydrophilic statins on iPSC-derived skeletal muscle cells from patients with familial hypercholesterolemia; Apr 20, 2025; pubmed:40254247. View Translational insights into statin-induced myotoxicity: Differential impact of lipophilic and hydrophilic statins on iPSC-derived skeletal muscle cells from patients with familial hypercholesterolemia on PubMed DBSMatchMaker: Connecting Clinicians Globally for Deep Brain Stimulation in Rare Diseases; Apr 18, 2025; pubmed:40248842. View DBSMatchMaker: Connecting Clinicians Globally for Deep Brain Stimulation in Rare Diseases on PubMed MAPK Signaling and Angiopoietin-2 Contribute to Endothelial Permeability in Capillary Malformations; Apr 16, 2025; pubmed:40235979. View MAPK Signaling and Angiopoietin-2 Contribute to Endothelial Permeability in Capillary Malformations on PubMed Dysregulation of N-terminal acetylation causes cardiac arrhythmia and cardiomyopathy; Apr 15, 2025; pubmed:40234403. View Dysregulation of N-terminal acetylation causes cardiac arrhythmia and cardiomyopathy on PubMed Systemic deficits in lipid homeostasis promote aging-associated impairments in B cell progenitor development; Apr 15, 2025; pubmed:40232347. View Systemic deficits in lipid homeostasis promote aging-associated impairments in B cell progenitor development on PubMed Generating Risk Reduction Analytics in Complex Cardiac Care Environments (GR<sup>2</sup>AC<sup>3</sup>E): Risk Prediction in Congenital Catheterization; Apr 15, 2025; pubmed:40230665. View Generating Risk Reduction Analytics in Complex Cardiac Care Environments (GR<sup>2</sup>AC<sup>3</sup>E): Risk Prediction in Congenital Catheterization on PubMed Pulmonary and Radiographic Findings in Pediatric Type 1 Laryngeal Cleft; Apr 14, 2025; pubmed:40227884. View Pulmonary and Radiographic Findings in Pediatric Type 1 Laryngeal Cleft on PubMed Nationwide demonstration of improved COVID-19 vaccination uptake through behavioural reminders; Apr 9, 2025; pubmed:40204873. View Nationwide demonstration of improved COVID-19 vaccination uptake through behavioural reminders on PubMed Sex differences in seizure presentation in a Dravet syndrome mouse model; Apr 9, 2025; pubmed:40203292. View Sex differences in seizure presentation in a Dravet syndrome mouse model on PubMed Lower respiratory rate during sleep in children with angelman syndrome compared to age-matched controls; Apr 8, 2025; pubmed:40200228. View Lower respiratory rate during sleep in children with angelman syndrome compared to age-matched controls on PubMed <em>ADCY5</em>-Related Movement Disorder; Jan 1, 1993; pubmed:25521004. View <em>ADCY5</em>-Related Movement Disorder on PubMed Show All Publications Show Fewer Publications