Clinical and genetic basis of congenital gonadotropin deficiency.

Update on Congenital Cranial Dysinnervation Disorders (CCDDs).

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

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.

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

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

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

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

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.

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

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

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.

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

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies.

[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].

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

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

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

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

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

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.

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.

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.

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.

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

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

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.

A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia.

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

Comprehensive Clinical, Diagnostic, and In Silico Assessment of a Novel 1p36.33p36.32 Copy Number Variant.

Double Mosaicism in Xia-Gibbs Syndrome.

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

Exploring the Impact of RNU4-2 Defects on Neurodevelopmental Disorders in a Korean Population.

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

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

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

Macrocephaly and Characteristic MRI Findings as Early Clues to a Hereditary Overgrowth Syndrome.

WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy.

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

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

First Report of a Child With a DeSanto-Shinawi Syndrome and a Polymorphous Low-Grade Neuroepithelial Tumor of the Young.

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

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.

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

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

Longitudinal Behavior Phenotype Hallmarks in RNU4-2 Syndrome: Implications for Clinical Management.

CTBP1 In Brain Development: A Novel Variant c.107G>C,p.(R36P) Leads to a Distinct Neurodevelopmental Disorder.

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

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.

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.

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.

A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype.

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].

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.

The Ketogenic Diet in the Neonatal Intensive Care Setting: The Case of a Preterm Newborn With Mitochondrial DNA Depletion Syndrome Type 13 (MTDPS13).

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

Type 2 Diabetes in a Portuguese Adolescent With Hijazi-Reis 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.

The Role of Pyridoxine Treatment for Seizures in Patients with PGAP3-Congenital Disorders of Glycosylation.

[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].

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.

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.

Population developmental hazard of over-the-counter NSAIDs.

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

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

Identification of a Novel TBCK Variation in an Azari Consanguineous Family With Psychomotor Developmental Disorder.

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

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.

A novel NSD2 pathogenic variant in a Chinese patient with Rauch-Steindl syndrome: a case report.

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

Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network.

New Insights into the Relation between Cognition, Behavior, and the CHD5 Gene: A Case-Report of an Adult Male with Parenti-Mignot Neurodevelopmental Syndrome.

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

'Pseudo-ataxic' negative myoclonic status in developmental and epileptic encephalopathy with spike-wave activation in sleep: Utility of ACTH therapy beyond west syndrome.

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

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

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.

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

Intellectual Developmental Disorder of Autosomal Dominant 61 Caused by a MED13 Variant Presenting With Congenital Unilateral Sensorineural Hearing Loss: A Case Report.

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.

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

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

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.

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.

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.

Familial Presentation of a Rare NCKAP1 Splice-Site Variant Associated With a Neurodevelopmental Disorder and Cutaneous Manifestations.

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.

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.

White-Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects.

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

Cornelia de Lange syndrome: What should a dermatologist know?

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.

Expanding the Phenotypic Spectrum of FOXC1-Related Axenfeld-Rieger Syndrome Type 3: A Case Report.

Novel variant in FGFR2 in a family with anterior segment anomalies.

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

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

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.

Clinical Insights Into a Rare SETD2 Disorder: Report of a Novel Variant.

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

Clinical and Molecular Spectrum of PPP2R1A-Related Neurodevelopmental Disorders: A Systematic Review.

17q12 Recurrent Deletion Syndrome in Childhood.

Delayed Dental Development in Children With Non-Syndromic Hypodontia: A Cross-Sectional Study Using a Machine Learning Approach to Dental Age Estimation.

Improving variant interpretation and diagnosis in Koolen-de Vries syndrome through a curated genotype-phenotype repository.

Genotype-Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center.

Alterations in auditory midbrain processing is observed in both female and male mouse model of Fragile X Syndrome.

Discovery of novel candidate genes for congenital diaphragmatic hernia via whole exome sequencing.

Assessing t(6;11)(q27;q23) and Tetrasomy 21 in Down Syndrome Patient: Cytogenetic Implications in Acute Myeloid Leukemia Pathogenesis.

[Clinical and genetic analysis of a child with X-linked Hoyeraal-Hreidarsson syndrome due to variant of DKC1 gene and a literature review].

Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice.

A pediatric case of diphthamide biosynthesis 1 gene defect presenting with developmental delay, short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome): a case report.

Two cases of TBL1XR1 heterozygous variants in children: a new splicing site variant identification and functional analysis through molecular docking and molecular dynamics simulation.

16p13.11 deletion/duplication: a large cohort study on prenatal diagnosis, postnatal outcomes, and phenotypic manifestations.

Significant improvement of neurological and radiological findings caused by multiple lateral meningocele by cyst-subarachnoid shunt in a 6-year-old boy: case report.

Vein 2 Worlds Collide: May-Thurner Syndrome and Oral Contraceptive Pill Use Precipitating Deep Vein Thrombosis in an Otherwise Healthy Patient.

Early onset Arboleda-Tham syndrome due to KAT6A variants: Case report.

Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk.

Insights into KIF11 pathogenesis in microcephaly-lymphedema-chorioretinopathy syndrome from a lymphatic perspective.

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation.

Clinical and neuropsychological characterization of Jacobsen syndrome (del11q).

Prenatally Diagnosed De Novo Interstitial Duplication in 2p21p24.3 with Unique Manifestations: Case Report.

A Novel LRP6 Mutation Highlights the Role of Wnt Signaling in Tooth Agenesis.

P10 Treatment-refractory psoriasiform dermatitis resulting from a rare genetic alteration in MSMO1 with marked improvement with combined cholesterol and statin use.

Double Genetic Diagnosis Involving MECP2 and EPHB4 in a Child with Neurodevelopmental Delay and Vascular Anomalies: A Case Report.

Novel KDM3B Variants in Two Chinese Patients With Global Developmental Delay and Autism.

Extracellular vesicle dysfunction contributes to synaptic and cognitive deficits in a mouse model of Angelman syndrome.

Prader-Willi syndrome: A rare genetic disorder with complex clinical manifestations.

[A case of Harel-Yoon syndrome with seizures caused by an ATAD3A variant].

Altered Auditory Maturation in Fragile X Syndrome and Its Involvement in Audiogenic Seizure Susceptibility.

Aripiprazole for treatment of attenuated psychosis syndrome in an adolescent with 22q11.21 deletion syndrome: A case report.

Sexual Health and Transition Needs in an Adolescent Girl With Attention-deficit Hyperactivity Disorder and Smith-magenis Syndrome.

A new case of Rafiq syndrome with coexisting thyroid dyshormonogenesis type 6 in a Chinese patient: case report and literature review.

Young people's experience of predictive genetic testing for inherited cardiac conditions: a qualitative study.

P38α MAPK-induced senescence in cranial suture progenitor cells promotes craniosynostosis.

Comparative analysis of clinical phenotypes and genetic characteristics in MEF2C-associated neurodevelopmental disorders.

Comorbidity of Attention Deficit Hyperactivity Disorder (ADHD) and Chung-Jansen Syndrome: Case Report and Review of Literature.

Mid-gestational cell-type-specific transcriptomic signatures in the prefrontal and superior temporal cortex in Down syndrome.

Functional analysis across model systems implicates ribosomal proteins in growth and proliferation defects associated with hypoplastic left heart syndrome.

Hypopituitarism and Rathke's cleft cyst in 48,XXYY Syndrome: new insights into sex chromosome aneuploidies.