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

Clinical and genetic basis of congenital gonadotropin deficiency.

Tau pathology in epilepsy: emerging mechanisms and translational opportunities.

Update on Congenital Cranial Dysinnervation Disorders (CCDDs).

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

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

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

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

Disturbed mitochondrial maturation in cardiolipin remodeling-deficient cardiomyocytes.

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

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.

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

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

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.

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

Deubiquitinase USP8 regulates the spindle assembly checkpoint in oocytes.

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.

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.

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

[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].

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.

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

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

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

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.

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

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

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

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

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.

Analysis of treatment outcome variations in infantile epileptic spasms syndrome.

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.

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

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

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

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

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

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

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

Sleep-Disordered Breathing in Chung-Jansen Syndrome.

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

Foundations of an Ovine Model of Fragile X Syndrome.

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

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

Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.

Fenfluramine in SCN1A-related GEFS+: A multicenter observational study on efficacy, EEG improvement, and tolerability.

Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.

Cardiac conduction system malformations in heterotaxy result from dysregulated Pitx2 expression.

Case Report: A female case of X-linked intellectual disability syndrome type 34 caused by a NONO frameshift variant and literature review.

Input-and cell-type-specific developmental alterations to thalamic synapses in a Dravet syndrome mouse model.

Multi-omics investigation of thyroid development and dysfunction in down syndrome.

Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation.

Use of fenfluramine in MECP2-related Rett syndrome: Findings from a retrospective multicenter pediatric case series.

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

Myosin VB is critical for progenitor cell identity and function in the intestine.

The microcephaly-associated protein YIPF5 differentially regulates ER export.

In vivo base editing of Chd3 rescues behavioural abnormalities in mice.

Communicative Development Inventories (CDIs) in etiologically diverse developmental conditions: A systematic review.

NONO-Related Syndromic X-Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort.

Analysis of intracellular organelles in neurons differentiated from iPSCs of Chédiak-Higashi syndrome patients.

Fetal Rapid Eye Movement Sleep Dysfunction as a Potential Early Indicator for NALCN-Related CLIFAHDD Syndrome: A Case Report.

Börjeson-Forssman-Lehmann Syndrome in a Pediatric Patient: A Four-Year Longitudinal Case Report Focused on Functional Evolution and Rehabilitation.

Case Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B disease: a multigenerational expression with genetic confirmation in the youngest generation.

A novel NMD-escaping STAG2 variant associated with syndromic neurodevelopmental delay, growth failure, and distinctive dysmorphism: expanding the phenotype in male patients and literature review.

Differential disruption of gonadal development by DEHP and paracetamol in male and female Wistar rats.

Comprehensive analysis of copy number variations in congenital heart defects Tunisian patients: chromosomal microarray analysis insights.

Role of SPAG6 in regulating physiological functions and tumorigenesis (Review).

Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader-Willi and Angelman Syndromes: A Review.

Hydrogel-imposed boundary conditions guide single-lumen neuroepithelial morphogenesis.

Protective role of early Tnfsf15 upregulation in limiting glomerular injury and proteinuria in experimental Alport Syndrome.

WAS Protein Deficiency Disrupts Memory B Cell Formation During Acute LCMV Infection.

Four women whose pioneering contributions to science have been largely overlooked.

Expanding the Clinical Spectrum of RERE-Related Disorders: A Case Report of Neurodevelopmental Disorder with Brain Malformations Including Chiari Type I.

Nager Syndrome Revisited: Integrating In Vivo and In Vitro Models to Decipher SF3B4-Dependent Tissue Coordination.

A human electrophysiological signature of Fragile X pathophysiology is shared in V1 of Fmr1-/y mice.

Molecular convergence enables precision medicine for pediatric low grade gliomas.

ASXL3 gene variants causing Bainbridge-Ropers syndrome: clinical and genetic analysis of four Chinese patients.

Rapid Eye Movement (REM) Sleep Behaviour Disorder in Moebius Syndrome: A Rare Pediatric Case.

Neurological Consequences of Infantile Vitamin B12 Deficiency - A Prospective Cohort Study.

MSTO1-related mitochondrial myopathy and ataxia syndrome: Case series and literature review.

Analysis of Eya1 and Tbx1 mutants highlights interactions between the muscle and developing cartilage during external ear formation.

Computed Tomography Analysis of Craniofacial Features in Japanese Patients With Cleidocranial Dysplasia.

[Analysis of variants of VPS13B gene in a child with Cohen syndrome].

[Analysis of a child with You-Hoover-Fong syndrome due to compound heterozygous variants of the TELO2 gene and a literature review].

[Clinical and genetic analysis of two children with Knobloch syndrome due to variants of COL18A1 gene].

Flocoumafen exposure induces skeletal developmental toxicity and neurotoxicity in zebrafish (Danio rerio).

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

Life expectancy of people with intellectual disability: a retrospective cohort study from New South Wales, Australia.

Caregiver-reported social impacts in down syndrome regression disorder.

[Research progress in diagnosis and treatment of non-tumorous salivary gland diseases].

Loss of Zmiz1 in Mice Leads to Impaired Cortical Development and Autistic-Like Behaviors.

Melatonin protects against fluoride-induced developmental neurotoxicity by alleviating abnormal mitophagy and apoptosis via the PINK1/Parkin pathway.

A dual-reporter mouse for therapeutic discovery in Angelman syndrome.

Muscle Thickness in Lower Extremity and Locomotor Functions in Children With Down Syndrome and Typical Developing Peers.

A Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 Microdeletion.

A novel de Novo KCNC1 mutation (c.1147 C > T) presenting with epilepsy and ADHD: a case report and literature review.

[Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism].

[Prenatal ultrasound manifestations and postnatal follow-up of fetuses with 22q11.2 microdeletion syndrome].

[Clinical phenotypes and genetic analysis of five children with Lamb-Shaffer syndrome due to novel variants of SOX5 gene].

Early rebalancing of neuroinflammatory cascades lastingly rescues prefrontal deficits in a 22q11.2ds model.

The impact of maternal flavivirus infections on fetal neurological outcomes: a scoping review.

Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome.

The genetic background of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A systematic review.

EBF2 variant identified in a patient with atypical partial lipodystrophy causes adipose fibrosis and dysfunction.

The 129S1/SvImJ Mouse Strain Is Resistant to the Effects of Early Embryonic Alcohol and Other Sonic Hedgehog Inhibitors.

Sagittal Craniosynostosis Associated With Chromosome 16p13.3 Duplication.

Epigenetic Mechanisms of Reproductive Dysfunction Induced by Endocrine-Disrupting Chemicals: Evidence From Molecular Studies.

Population developmental hazard of over-the-counter NSAIDs.

Serum and cerebral folate are normal in Down Syndrome Regression Disorder.

Cognitive and neuropsychomotor development in craniosynostosis: an evaluation of the most affected functions.

Neurodevelopmental outcomes in children with craniosynostosis: a retrospective cross-sectional analysis.

Distinct thalamic functional connectivity and volume patterns across focal epilepsies in children: A multimodal neuroimaging study.

Expanding the Phenotype of STAMBP-Related Microcephaly-Capillary Malformation Syndrome.

Atypical Histopathological Findings in an Epilepsy Surgery Case of Sturge-Weber Syndrome With Coexisting Developmental Venous Anomaly.

Digital Technologies in Diagnosing Solitary Median Maxillary Central Incisor Syndrome.

Interstitial 12p Deletion Syndrome: Revised Minimal Critical Region and Review of the Literature.

Beyond Neurodevelopmental Delay: BICRA-Related Coffin-Siris Syndrome 12 with Severe Intestinal Dysmotility and Recurrent Pneumothorax.

Genetic, Epigenetic, and Non-Genetic Factors in Testicular Dysgenesis Syndrome: A Narrative Review.

A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome.

Doppler Assessment of the Fetal Brain Circulation.

Cohen syndrome with novel VPS13B variants presenting as early-onset diabetes: a case report.

Rodent models of genetic epilepsy and its association with neurocognitive impairment- a systematic review.

Clinical and Molecular Characterization of Five Additional Individuals With SATB2-Associated Syndrome in Guangxi.

Clinical, Psychosocial, and Care Coordination Concerns in Macrocephaly Capillary Malformation Syndrome: Insights From a Large International Survey.

A systematic review and meta-analysis of morphosyntactic skills in Williams syndrome.

Association between cranial morphology and dysgnathias in adolescents and adults: A prospective case-control study.

Transcription factor ZEB2 is essential for ureteral smooth muscle cell differentiation.

Prenatal Diagnosis of Radio-Tartaglia Syndrome Caused by a Loss-of-Function Variant in SPEN in a Chinese Family.

A novel variant in SIAH1 associated with autosomal dominant Buratti-Harel syndrome.

Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity.

Mapping the Prenatal Growth of the Mandible.

Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.

Posterior Cranial Decompression in ERF-Mutated Multisuture Craniosynostosis.

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Clinical and genotypic characteristics of 19 children with STXBP1-encephalopathy.

Neonicotinoid-Induced Neurotoxicity in Developing Brain: A Systematic Review.

Long-term benefit of GPi-DBS in YY1-related dystonia: a case report.

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.

Multidisciplinary Approach to Comprehensive Dental Care in Sturge-Weber Syndrome: A Case Report.

Brain volume trajectories in Down syndrome and autosomal dominant Alzheimer's disease.

Biomarker discovery in Lennox-Gastaut syndrome: Advances and challenges in electrophysiological, genetic, neuroimaging, and neuroinflammatory approaches.

Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.

Single-cell atlas of the developing Down syndrome brain cortex.

Loss of Drosophila UBE3A phenocopies Piezo dysfunction and drives hyperphagic feeding in Drosophila.

AI-Based CT Image Recognition With Med-Gemini-3D in the Diagnosis of a Rare Craniofacial Condition: A Catlin Mark Skull.

Clinical Factors Associated with Postnatal Urinary Titin N-Fragment in Neonates.

Caregiver-Reported Attainment of Developmental Skills in Down Syndrome.

Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities.

Altered hepatic metabolism in Down syndrome.

[Nuclear Factor I-X Regulates Molecular Pathways Related to Craniofacial Development Through Phase Separation].

Fertility preservation and counselling in prepubertal and pubertal girls with Turner syndrome.

Development of a patient-centered conceptual disease model in Ring 14 syndrome: a patient-centered model of lived experience.

Clinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese Patients.

Descriptive Exploration of Features Among Infants With Prenatal Fentanyl Exposure in a Multisite Cohort of Maternal-Infant Dyads Affected by Opioid Use Disorder.

Etiology of Infantile Epileptic Spasms Syndrome and Clinical Response With Vigabatrin as the First Treatment.

Gallbladder Agenesis in a Patient With Klinefelter Syndrome Presenting With Hematemesis and Right Upper-Quadrant Pain.

Chromosome engineering to correct a complex rearrangement on Chromosome 8 reveals the effects of 8p syndrome on gene expression and neural differentiation.

The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis.

What Motivates Parents of Young Children With Down Syndrome to Participate in Research: A Focus Group Analysis.

Occipital Extracranial Dermoid Cyst in a Neonate With Cardiofaciocutaneous Syndrome Type 4 (CFC4): A Case Report.

Proceedings of the 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders.

The Sh3Pxd2bnee-/- mouse reveals developmental features of Frank-ter Haar syndrome.

MicroRNAs in fetal alcohol spectrum disorders: A systematic review of prenatal exposure and molecular targets.

Mechanisms of D‑tetramethrin‑induced neurotoxicity and locomotor abnormalities in zebrafish embryos revealed by transcriptomic analysis.

Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohort.

The missense mutation Y65C in PQBP1 causes microcephaly and cognitive deficits through a combination of partial loss-of-function and gain-of-function effects.

Temporal transcriptomic changes during neurodevelopment in a mouse model of Smith-Lemli-Opitz syndrome.

Explaining the Comprehension-Production Vocabulary Gap Through Neural Networks and Cross-Syndrome Evidence: Insights From Williams Syndrome.

Elevated serotonin receptor 2A signaling restores learning and memory in a Fragile X syndrome model.

Alterations in electroencephalography signals in female fragile X syndrome mouse model on a C57BL/6J background.

Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.

Cornelia de Lange syndrome: What should a dermatologist know?

Heterozygous nonsense FLI1 p.Met100∗ variant results in thrombocytopenia and increased erythroid gene expression.

Bilateral congenital glaucoma in a child with Nicolaides-Baraitser syndrome: a case report.

Griscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications.

Identification of a new frameshift homozygous variant of PEX3 gene in a preterm infant with profound global developmental delay and bilateral ptosis: a case report and updated literature review.

Review of early development in children with Down syndrome: family and clinician partnership.

Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years.

Impact of consanguineous marriage on developmental dental anomalies: a cross-sectional study.

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons.

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns.

Expanding the clinicopathological spectrum of nevoid basal cell carcinoma syndrome associated with odontogenic keratocyst in the Indian population: an institutional experience of 39 cases and review of the literature.

Therapeutic GSK-3β targeting stabilizes multifunctional β-catenin to rescue neuronal and behavioral deficits in fragile X messenger ribonucleoprotein 1 knockout mice.

Cerebral Cavernous Malformations Presenting With Epileptic Spasms in Children.

Joint hypermobility as a manifestation of neonatal Sotos syndrome.

Case report and literature review of neurodevelopmental syndrome linked to DOT1L variants.

Results of dedicated venous nitinol stents in treating chronic inferior vena cava occlusions.

Neuropsychiatric signatures across the Alzheimer's disease continuum in Down syndrome and sporadic forms: A biomarker-driven comparison.

NF1-Specific Growth Charts for Head Circumference Over the First 3 Years of Life.

Expanding the Genetic Spectrum of Non-Syndromic Cleft Lip and Palate Through Whole-Exome Sequencing.