Diets-Jongmans Syndrome due to a Novel KDM3B Variant: The First Molecularly Confirmed Case from Turkey.

Back pain in an adolescent: not just a sore spine!

Different Laterality in Hereditary Monozygotic Twins with Duane Retraction Syndrome Type I: A Case Report.

Saliva Proteomics Shows Immune Activation and Metabolic Shifts in Female Jalili Syndrome Patients.

Regulation of physical activity and energy expenditure through Phf6 in the medial preoptic area.

SHANK3 and beta-synuclein are novel blood-based biomarkers for the Phelan-McDermid Syndrome: a pilot study.

The selective 5-HT1A receptor biased agonist, NLX-101, corrects anomalous behavioral phenotype in a mouse model of fragile X syndrome.

RNF25 confers mRNA damage tolerance by curbing activation of the integrated stress response.

The efficacy and tolerability of lacosamide adjunctive therapy in children with drug-refractory epilepsy: A nationwide Turkish cohort study.

Neurodevelopmental and Psychiatric Outcomes in Pediatric Nonsyndromic Craniosynostosis: Insights for Plastic Surgery From a Retrospective Risk Analysis.

Clinical and genetic basis of congenital gonadotropin deficiency.

Epidemiology, Comorbidities, and Healthcare Costs of Prader-Willi Syndrome in South Korea Using the Korean National Health Insurance Service Database.

Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.

Tau pathology in epilepsy: emerging mechanisms and translational opportunities.

GATA2 Deficiency Syndrome: A Case Series and Literature Review.

Chronic inhalation exposure to 0.5 ppm of 2-ethyl-1-hexanol induces histopathological changes in olfactory, respiratory, and skin tissue of mice.

Update on Congenital Cranial Dysinnervation Disorders (CCDDs).

Physiologic variation in sperm miRNAs tune embryonic gene regulatory programs and developmental outcomes.

Etiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a KCNK9 Variant.

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

Characterizing SCN1A -Related Disorders Using Real-World Data Across 681 Patient-Years.

A New Patient With SPOUT1-Related Neurodevelopmental Disorder Identified by Genomic Data Re-Analysis: Novel Phenotypic Features and Literature Review.

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid Leukemia.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Electroencephalography signals in a female Fragile X Syndrome mouse model.

Emerging disease-modifying therapies for Angelman syndrome: A comprehensive review for pediatric neurologists.

Exploring sleep health and circadian rhythm disruption in Sjögren's disease: an accelerometric and self-reported cross-sectional study.

Responsive neurostimulation in children, adolescents, and young Adults-Longitudinal effectiveness and safety.

The 10- to 23-Year Outcomes of Cemented Total Hip Arthroplasty Utilizing Impaction Bone Grafting for Severe Acetabular Bone Defects in Osteoarthritis and Rheumatoid Arthritis.

Preoperative pulmonary hemodynamics and clinical decision making to determine operability and risk of long-term pulmonary hypertension in infants with open shunt under 1 year.

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

Patient- and Family-Centered Care for the Emergency Admission of a Child with Autism Spectrum Disorder.

Established and emerging non-cellular therapies in inherited bone marrow failure syndromes.

Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).

Neonatal hypoxic-ischemic encephalopathy online registry in Shenzhen: protocol for a multicentre, prospective, open, observational cohort study.

Why Is Colorectal Cancer Occurring Earlier? Metabolic Dysfunction, Underrecognized Carcinogens, and Emerging Controversies.

Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.

Diagnostic genetic testing indications and findings in type II, IX and XI collagenopathies.

Reframing schizophrenia as a neurodevelopmental syndrome: The scientific and social imperative.

Novel Variants in PTPN11, NF1, RASA2, and MAP2K1: Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort.

Differences in heart DNA methylation between sudden infant death syndrome and other sudden deaths.

A Twist1-regulated distal enhancer crucial for Alx1 gene expression and function during craniofacial development.

Practical consensus recommendations for polytherapy involving stiripentol in Dravet syndrome: A nominal group approach.

Disturbed mitochondrial maturation in cardiolipin remodeling-deficient cardiomyocytes.

Somato-Psychic Pathway: a universal developmental trajectory linking somatic structural-functional integrity, autonomic regulation, and the emergence of mind.

Genomic modifiers of malignant and neurodevelopmental phenotypes in individuals with PTEN hamartoma tumor syndrome.

Heterozygous frameshift KMT2A variant in a patient with Wiedemann-Steiner syndrome.

Clinical and molecular findings in Cornelia de Lange syndrome. Case series.

Biallelic SUPT4H1 Variants Cause a Multisystem Neurodevelopmental Disorder Associated with Disrupted Transcription.

Long-lasting remodeling of astrocytes in an Scna1+/- mouse model of Dravet syndrome.

Reproductive Effects of Combined PCOS Model and High-Fat Diet: Tracing Inheritance.

Identification of a novel NSD1 pathogenic variant in a Senegalese child with Sotos syndrome.

Aicardi-Goutières Syndrome: Insights from a Middle Eastern Case Series.

Matrix metalloproteinase-3 (MMP3) in non-syndromic cleft lip and palate: extracellular matrix remodeling, developmental signaling, and molecular mechanisms.

Strengthening Undergraduate Medical Education for Inclusive Health Care for People With Down Syndrome and Intellectual and Developmental Disabilities in Medical Schools: Protocol for a Scoping Review.

Tönnis Grade 1 Is Associated With Higher Total Hip Arthroplasty Conversion Than Tönnis Grade 0 at 10-Year Follow-Up After Hip Arthroscopy for Femoroacetabular Impingement Syndrome: A Propensity-Matched Cohort Analysis.

Identification of autosomal and sex chromosome aneuploidies using next generation sequencing.

OTUD5-related rare X-linked multiple congenital anomalies and neurodevelopmental syndrome: clinical findings and review of the literature.

Clinical and Therapeutic Strategies for West Syndrome in Low-Resource Settings: A 10-Year Experience From Cameroon.

Case Report: Compound heterozygous mutations in the IDUA gene causing mucopolysaccharidosis type I with uterine developmental abnormality.

First reported case of developmental dysplasia of the hips in a child with 3M syndrome: a case report.

A Novel Phenotypic Presentation of Absence Seizures in a 15-Month-Old with PIGK-Related GPI Biosynthesis Disorder: A Case Report.

The 9th International RASopathies Symposium.

A novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency.

Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.

Differences in Parents' Beliefs and Practices with Infant Containers Relative to the Beliefs of Pediatric Therapists.

Factors associated with social participation among children with fragile X syndrome.

Cardiometabolic prediction models for young people with psychosis spectrum disorders in the UK (PsyMetRiC 2.0): a retrospective, multicohort clinical prediction model study.

A Recent Trend in Diagnosis and Therapeutics for Polycystic Ovarian Syndrome (PCOS) Management: A Patent Landscape Report.

Clinical Presentation and Diagnostic Challenges of Congenital Thoracoabdominal Wall Defects in Dogs: Insights from a Case Series and Literature Synthesis.

Melatonin as a Redox Modulator in Developmental Programming: Implications for Cardiovascular-Kidney-Metabolic Risk.

Succinate supplementation ameliorates musculoskeletal defects caused by PLOD3 mutations in a BCARD syndrome model.

Rare and emerging arterial diseases of the supra-aortic trunks: Diagnostic and therapeutic insights.

Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants.

Mitochondrial Dysfunction in Monogenic Developmental and Epileptic Encephalopathies.

"Congenital Muscular Pseudohypertrophy of the Upper Limb: Morphology, Anatomy and Surgical Guidelines of An Unique Entity".

Deubiquitinase USP8 regulates the spindle assembly checkpoint in oocytes.

Repeated Stress Escalates Aggression and Activity in Fronto-Limbic Regions in Cntnap2-/- Mice.

Fibronectin 1 is required for suture patency and dysregulated across craniosynostosis models in the mouse.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Ultra-rare biallelic THAP12 variants cause loss of function and underlie severe epileptic encephalopathy.

The Management of Evolving Neuropsychiatric Symptoms in a Female with Fragile X Syndrome: A Case Report.

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12-Related Developmental Disorders.

Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.

Clinical characteristics and anti-ZSCAN1 antibody titer analysis in a nationwide survey of ROHHAD (-NET) syndrome.

Trajectory of skill acquisition, loss, and regain in females with classic Rett syndrome.

Protocol for an open-label, randomised, controlled trial to evaluate the efficacy and safety of sotatercept add-on therapy compared with pulmonary vasodilator-based standard of care for pulmonary vasodilator-resistant pulmonary arterial hypertension associated with unrepaired congenital shunts (atrial septal defect, ventricular septal defect or patent ductus arteriosus), including Eisenmenger syndrome: the SuMILE trial.

MECP2-Associated Rett Syndrome Without Developmental Regression-A Case Series.

A KCNC1 variant linked to Rett syndrome disrupts ER to Golgi trafficking of Kv3.1 channel.

Factors associated with single versus multiple supernumerary teeth in a paediatric population: a cross-sectional study.

Biallelic RNU2-2-related neurodevelopmental disorder presenting as Lennox-Gastaut syndrome.

Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype.

Update on total intravenous anesthesia in children.

Right ureterovesical junction cyst associated with ipsilateral renal agenesis: a case report of a possible Wolffian duct maldevelopment.

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies.

Recurrent IRF2BPL c.2152del Variant in NEDAMSS: A Case Report and Comparative Analysis.

A hierarchical gene-hormone model of cognitive circuit development in Turner Syndrome (45,X).

[Analysis of clinical features and genetic variants in a Chinese pedigree affected with Spondyloepiphyseal dysplasia type Ehlers-Danlos syndrome due to variants of B3GALT6 gene].

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

A novel heterozygous pathogenic variation in the MECP2 gene causing typical Rett syndrome: a case report.

Identification of an emerging heterozygous variant in KAT6A by whole exome sequencing: a case report.

Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping.

Congenital Ocular Motor Apraxia as the First Sign of Joubert Syndrome: A Case Report.

Safety and effectiveness of diazepam nasal spray in patients with Rett syndrome and seizure clusters: post hoc analyses from a long-term safety study and survey of severity and burden.

Stimulation of the medial septum diagonal band of broca rescues learning and memory deficits in Fmr1 KO mice.

Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.

Beyond genetics: A rare case of childhood disintegrative disorder following psychosocial trauma.

Pediatric SleepNet: A Deep Learning Network for Reliable Pediatric Sleep Staging Across Developmental Stages.

Expanding the Genotypic Spectrum of SLC18A2 Mutation-Related Disorder-A Novel Mutation and Review of Literature.

De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities.

Impaired attention and cognitive deficits associated with pain and autonomic symptoms in hypermobile Ehlers-Danlos syndrome: a pilot study.

Congenital Symptomatic Scaphoid-Trapezium Coalition in a Pediatric Patient With VACTERL Association.

Integrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndrome.

Bilateral Ankyloblepharon Filiforme Adnatum: A Case Report Highlighting the Importance of Early Recognition and Treatment.

Early Childhood-Onset Prosopometamorphopsia Following Respiratory Tract Infection With Serological Evidence of Mycoplasma pneumoniae Exposure: A Pediatric Case Report.

Validation of the sibling acceptance questionnaire among typically-developing emerging adult siblings of individuals with disabilities.

Resource Availability Modulates Gene Expression Across Life Stages in a Migratory Butterfly.

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.

Evaluating the Diagnostic Yield of Prenatal Trio Exome Sequencing in Families With a History of Developmental Delay and Intellectual Disability.

Crossing the finish line towards a disease-modifying treatment for Angelman syndrome.

Prognostic Factors for Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay Due to TRNT1 Gene Mutations: A Case Report and Systematic Review.

Proximity extension assay-based serum proteomic profiling identifies shared protein signatures in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

Generation of hiPSCs lines from PRICKLE2-mutant individuals with epilepsy.

Identification and assessment of paediatric cefepime-induced neurotoxicity in a retrospective cohort of paediatric intensive care patients.

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.

Organ-Specific Histopathological Effects of Prenatal Alcohol Exposure: A Narrative Review.

Structural insights into disease-associated mutations in the microRNA processing machinery.

Community Based Pre-School Screening to Detect Developmental, Behavioural, Hearing and Vision Problems in Survivors of Neonatal Cardiac Surgery.

Complete congenital agenesis of major salivary glands: case report and systematic review of the literature.

Child Neurology: Multiple Genetic Etiologies Causing Dandy-Walker Variant With Microcephaly, Epilepsy, and Global Developmental Delay.

Changes in hypsarrhythmia in West syndrome following combined high-dose prednisolone and vigabatrin therapy: A standardized, low-resolution, brain electromagnetic tomography study.

CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections.

Genetic analysis of triplicated genes affecting sex-specific skeletal deficits in Down syndrome model mice.

Evolution of calyx diversity in angiosperms: a focus on transcriptomic repatterning mechanisms underlying inflated fruiting calyx within Solanaceae.

Examining adaptive functioning in pediatric patients with congenital heart disease.

Nucleoli-localized KANSL2 as an epigenetic regulator of ribosome biogenesis in glioblastoma cells.

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants.

Navigating challenges: a child with Apert syndrome and global developmental delay from a low-income family.

Context-dependent effects of adaptive immunity on IFN-α-mediated neurotoxicity in Aicardi-Goutières syndrome.

Updating guidelines for the diagnosis of fetal alcohol spectrum disorders (FASD) in Poland.

Analysis of treatment outcome variations in infantile epileptic spasms syndrome.

Expression of TGFB1 and ERK in cumulus cells: Implications for oocyte maturation in women with polycystic ovary syndrome: A cross-sectional study.

Novel LARS2 variants in patients with Perrault syndrome: expanding the genetic spectrum and phenotypic heterogeneity.

Association between prenatal opioid exposure and health, education, and foster care between ages 0 and 18.

[Features of premorbid status in patients with Rett syndrome].

Two Cases of CLIPPERS-like Syndrome Sharing a Hypomorphic UNC13D Variant.

The S100A8/A9 complex promotes food intake and prevents adipose tissue loss during cancer cachexia in mice.

Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature review.

Zorevunersen in Children and Adolescents with Dravet Syndrome.

Managing Fever and Vaccination Risks in Dravet Syndrome: From Pathophysiology to Clinical Practice.

Exploring the role of TWIST1 in malocclusion and craniofacial morphology.

Autism Spectrum Disorder in a Child with Floating-Harbor Syndrome: A Case Report.

Etiological Analysis and Classification of 108 Patients with Infantile Epileptic Spasms Syndrome Based on the 2017 International League Against Epilepsy Classification.

Animal models of hypoplastic left heart syndrome: genetic and anatomical approaches.

SlBBX20 is a regulator of plant development in response to shade in tomato.

Spike destabilization attenuates Mink Cluster 5 SARS-CoV-2.

Collectin-11 regulates osteoclastogenesis and bone maintenance via a complement-dependent mechanism.

Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54.

Effects of fibroblast growth factor 2 on muscle precursor cells from mouse limb and extraocular muscle.

Mutation type-specific transcriptomic signatures and readthrough therapy rescue in SMC1A-related developmental and epileptic encephalopathy.

Unlocking the potential of multidisciplinary clinics to transform rare epilepsies care, insights, and research.

[Decreased plasma citrulline is a biochemical marker in newborn screening for MT-ATP6-associated mitochondrial disease: two case reports and a literature review].

Comparative Evaluation of Sella Turcica Morphology and Dimensions in Skeletal Class III Malocclusion and Cleft Lip and Palate Patients Versus Class I Individuals.

Uncovering targets and molecular pathways for personalizing treatment in epilepsy.

Medicaid home and community based services are vital for adults with intellectual and developmental disabilities: A descriptive study of service use among all adult enrollees, 2022.

Basic Ventilator Graphics in the NICU: A Practical Overview.

Elevated gamma spectral event peak power during auditory chirp is associated with neuropsychiatric features in Fragile X syndrome.

A Robust Methodological Framework for Generating Whole-Brain and Cortical Organoids From Diverse Healthy- and Patient-Derived Induced Pluripotent Stem Cell Lines.

A Novel ATXN7L3 De Novo Variant Underlies Harel-Tora Neurodevelopmental Syndrome (HATONS) With Pre-Axial Polydactyly.

Neonatal Sepsis-Induced Coagulopathy: An Evolving Frontier at the Crossroads of Inflammation and Hemostasis.

Toward practical standardization: Development of clinical common data elements for pediatric epilepsy in Korea and exploration of their clinical utility.

Maternal Child-Directed Speech Toward Children With Infantile Spasm or West Syndrome.

In vitro maturation 2.0: a new era for an underdog in ART.

Cell-type-specific alternative splicing in the brain and kidney of a Setbp1S858R Schinzel-Giedion syndrome mouse.

Early pacing in a child with Lodder-Merla syndrome and progressive sinus node dysfunction: a case report.

Loop Extrusion Accelerates Long-Range Enhancer-Promoter Searches in Living Embryos.

Macrodystrophia Lipomatosa: A Rare Case of Right Lower Extremity Gigantism Associated With Syndactyly.

N-Cadherin Dynamically Regulates Schwannoma Migration and Represents a Novel Therapeutic Target in NF2-Related Schwannomatosis.

Recurrent Severe Hypothermia as a Manifestation of Central Thermoregulatory Dysfunction in a Patient With Cerebral Palsy and Shaken Baby Syndrome.

The Not-So-Empty Nest: Exploring the Lived Experience of Iranian Parents with Adult Children Migrating from Tehran.

Long-Term Efficacy of Limosilactobacillus reuteri DSM17938 in the Prevention of Functional Abdominal Pain Disorders.

Congenital Temporomandibular Joint Ankylosis: Investigating Potential Genetic Etiologies with Whole Exome Sequencing.

Sleep-Disordered Breathing in Chung-Jansen Syndrome.

Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.

Xp22.33 Duplication Encompassing PAR1 in a Male with Syndromic Neurodevelopmental Disorder and Tall Stature.

Genomics of Complex Neurodevelopmental Disorders with Variable Epilepsy Phenotypes: A Clinical Review of Dup15q Syndrome.

Foundations of an Ovine Model of Fragile X Syndrome.

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.

A Splice Acceptor Variant in DLL3 Is Associated with Spondylocostal Dysostosis in a Litter of Mixed-Breed Dogs.

Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.

Redox-Driven Precision Medicine for Life-Course Prevention of Cardiovascular-Kidney-Metabolic Syndrome.

A Developmental Study of MeCP2 with Core and Linker Histones Indicates a Dynamic Change During Adolescent Brain Development in a Region- and Strain-Specific Manner in Mice.

Neuropsychiatric Phenotype and Treatment Challenges in 47,XYY Syndrome: A Narrative Review with a Case Series of Adolescents.

A Novel Mouse Model to Identify Antigen-Specific Immune Responses in Pancreatic Cancer Cachexia.

Breastfeeding in Infancy and Adult Health: A Narrative Review.

A Clinical Practice Example of Smith-Magenis Syndrome in the Neuropediatric Clinic: Etiology, Clinical Presentation, Diagnostics and Therapeutic Approaches-A Case Report.

Disrupted temperature-sleep coupling mechanism in a Dravet syndrome mouse model.