Clinical and genetic basis of congenital gonadotropin deficiency.

Anaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.

ASPH-related ectopia lentis revisited: genetic variability, clinical diversity, and evolving therapeutic approaches.

Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective Study.

Update on Congenital Cranial Dysinnervation Disorders (CCDDs).

Congenital Optic Nerve Anomalies and Associated Systemic Conditions.

Extracellular vesicle miR-93-5p cargo regulates glomerular endothelial cell damage in Alport syndrome.

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.

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.

Thorough QT Study on the Effect of Therapeutic and Supratherapeutic Dosing of Givinostat in Healthy Volunteers.

Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature Review.

Aortic dissection during the perinatal period in women with Marfan-related disorders: a retrospective cohort study using the Japanese Diagnosis Procedure Combination database.

[A case of left ventricular apical hypoplasia].

Neuropathological measures of increased tau phosphorylation across the Down syndrome lifespan.

KCNH2 Duplication Variant (c.2164_2181dup) Associated with Sudden Cardiac Death in a Family with Congenital Long QT Syndrome.

Double Jeopardy - A Case of Overlapping Takotsubo Syndrome and Spontaneous Coronary Dissection.

Immune mechanisms of congenital Zika syndrome.

Simultaneous Management of May-Thurner Syndrome and Spigelian Hernia: A Case Report.

Partial Anomalous Pulmonary Venous Return in Lung Cancer Surgery: Diagnostic Challenges and Surgical Considerations in Two Cases.

Combining blood biomarkers and the German version of the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID-G) for diagnosing cognitive decline in Down syndrome.

Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report).

The R203W substitution drives PACS-1 syndrome by disrupting intramolecular regulation.

Follicle-dependent differential localization of adipokines in the letrozole-induced hyperandrogenized mouse ovary.

Understanding the impact of growth hormone on ventilatory control stability in children with Prader-Willi syndrome.

Terlipressin Therapy for Portal Hyperperfusion Secondary to Portal Vein Size Discrepancy After Pediatric Liver Transplant.

Neurofeedback interventions for obsessive-compulsive and related disorders: Current evidence and future directions.

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

Psychiatric comorbidity in DiGeorge association: Suicidal ideation and bipolar disorder.

Case Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening.

A Novel Mutation of PTCHD3 Identified in a Chinese Family with Basal Cell Nevus Syndrome-associated Odontogenic Keratocysts.

Three Yemeni Siblings With Johanson-Blizzard Syndrome: A Case Report and Literature Review.

Phosphoproteomics elucidates the functional impact of the PTPN11 p.Asn308Ser variant in a Noonan syndrome pedigree.

A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny-Caffey syndrome type 2.

Sucking Patterns in Infants with Down Syndrome admitted to a Level 4 Neonatal Intensive Care Unit.

A Novel MID1 Mutation Identified in a Patient With Craniofacial Anomalies and X-Linked Intellectual Disability.

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

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

Bilateral adrenal lesions as a manifestation of prolonged glucocorticoid withdrawal in classical adrenal hyperplasia.

Prenatal sonographic features and outcomes of radial ray defects - a 14 case series with a literature review.

Deficient Cardiolipin Remodelling Alters Muscle Fibre Composition and Neuromuscular Connectivity in Barth Syndrome.

Measurement of Tau Protein and Aβ Amyloid Plaques in Postmortem Human Brains of Down Syndrome and Alzheimer's Disease by Using [125I]IPPI and [125I]IBETA Autoradiography.

An Autopsy Case With Fragile X-Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System.

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

Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.

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.

Congenital lumbar and umbilical hernias in lumbo-costo-vertebral syndrome with ipsilateral renal agenesis: A rare case report with literature review.

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

The 9th International RASopathies Symposium.

[Cockayne syndrome: peculiarities of clinical manifestations and algorithm of observation in childhood].

Clenched fist syndrome: unveiling a motor manifestation of schizophrenia-a case report.

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

Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program.

Dietary Patterns and Lifestyle Factors as Determinants of Body Mass Index and Body Composition in Individuals with Down Syndrome-A Study Across Three Clinical Sites.

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations.

Toward Understanding the Role of miRNAs in Cleft Palate Only: Observations from Patient Tissues and In Vitro Assays.

Outcomes of Heart Transplantation in Single-Ventricle Physiology: A Retrospective Single-Center Experience with Emphasis on Surgical Complexity.

Multisystem manifestations of Sjögren-Larsson syndrome in early childhood and its dental implications.

Effects of Cannabidiol on TAFAZZIN-Deficient B-Lymphoblastoid Cells.

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

Daily executive function in children and adolescents with non-syndromic craniosynostosis: association with timing of surgical intervention.

Tuberous sclerosis complex.

Long-term changes in QT interval in hemodialysis patients.

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.

Complicated Kartagener Syndrome Presenting as Type II Respiratory Failure: A Case report.

Bedaquiline-related QTc Prolongation in Multidrug Resistant Tuberculosis Patients: A Prospective Study.

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

The people behind the papers - Alexander Phillips and David Keays.

Expression of Purinergic and Endothelial Activation Markers in Brain Tissue From Fatal Microcephaly Associated With ZIKV.

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies.

The effect of gestational diabetes on maternal and neonatal outcomes.

[Calcinosis cutis in a hemodialysis patient with Von Hippel-Lindau disease].

Network Disconnection Syndrome in Unruptured Brain Arteriovenous Malformations: A Multimodal Connectome Study.

[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].

[Analysis of genetic variant and phenotype of a child with Chanarin-Dorfman syndrome].

[Clinical phenotype and genetic analysis of a child with CAKUTHED syndrome due to variant of PBX1 gene].

[Clinical features and genetic etiology analysis in a patient with Fliedner-Zweier syndrome caused by a de novo SCAF4 variant].

[Application of SNP linkage-based PGT-M to block the transmission of EFNB1 deletion in a Chinese family affected with Cranio-facial-nasal syndrome].

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

Expanding the Genotypic and Phenotypic Spectrum of AP5Z1-Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review.

Unrepaired Truncus Arteriosus Type 1 With Eisenmenger Syndrome and Recurrent Embolic Strokes: An Adult Case Report.

QT Myopia and Cardiac Safety: Expanding the Aperture of Arrhythmia Assessment in Early Phase Drug Development.

Nail Patella Syndrome Diagnosed in a Proband With Renal Failure Through Skeletal and Nail Deformities in Her Offspring: A Case Report of a Novel De Novo Genetic Defect in the LMX1B Gene.

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum.

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

Absence of lumbosacral plexus abnormalities in preschool children with tethered cord syndrome: A multiparametric MRI study.

Neonatal KLHL24-Associated Epidermolysis Bullosa Simplex: Clinical Presentation and Genetic Confirmation of a Rare Skin Fragility Syndrome.

Characterization of an induced pluripotent stem cell line from a long QT syndrome type 1 patient possessing the KCNQ1 c.691C > T (p.Arg231Cys) variant.

The Utility of Face2Gene App for Syndrome Recognition in Indian Children with Dysmorphism: Author's Reply.

Corneal biomechanics alterations and increased risk for corneal ectasia in Turner syndrome.

Case Report: Whole-genome sequencing of urothelial carcinoma in an adult patient with CLOVES syndrome reveals a lack of PIK3CA mutation and a genomic landscape consistent with urothelial carcinoma.

Unilateral port wine stain on the face: a case report and review.

Novel RAD50 variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response.

Clinical, Radiological, and Genetic Profile of Patients with FA2H-Associated Neurodegeneration: Eight Cases from India and a Review of the Literature.

Sleep-related respiratory impairment and psychosocial stress in patients with persistent orofacial pain: A cross-sectional exploratory study.

Results of a Phase 1 Study Assessing the Effect of CIN-102, a Novel Formulation of the Dopamine Receptor Antagonist Domperidone Designed to Treat Gastroparesis, on Cardiac Repolarization in Healthy Volunteers.

Development of an integrative cross-omics approach for conceptual adverse outcome pathway network construction.

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

Revisiting the W-Index and Waardenburg Syndrome: A Retrospective Review of Waardenburg Syndrome Diagnoses at a Single Site Hearing Loss Clinic and the Sensitivity, Specificity, and Genotype-Phenotype Correlations of an Elevated W-Index.

Two Successful Pregnancies in Women With Swyer Syndrome Using Oocyte Donation: Case Report.

Two Cases of Successful Kidney Transplantation From a 39-Year-Old Male Deceased Donor With Marfan Syndrome: A Case Series.

A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.

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

To Do Or Not To Do: Therapeutic Hypothermia Treatment For An Infant With HIE And Prenatal Spinal Muscular Atrophy With Congenital Bone Fractures.

General Anesthesia for a Child With Sjögren-Larsson Syndrome.

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

Fulminant Amyloid β-Related Angiitis With Herniation and Rapid Response to Tocilizumab: A Case Report.

Lamb-Shaffer syndrome in a Chinese adolescent: A case report.

Intravenous Haloperidol, Agitation, and the QTc: Misconceptions and Heuristics.

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.

A Presumed Dysphagia Aortica in a Siamese Cat.

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.

The Utility of Face2Gene App for Syndrome Recognition in Indian Children with Dysmorphism: Correspondence.

[Exertional syncope: A diagnosis of long QT syndrome. A practice-oriented case report on risk stratification and management].

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

Polysplenia syndrome complicated by multiple intrahepatic bile duct stones in an adult: a case report.

Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.

Ventricular assist device unloading reverses microvascular senescence in single ventricle disease.

JAK-STAT signaling: molecular mechanism and targeted treatment in dento-maxillofacial abnormalities.

A Phase I Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Fenebrutinib and Effect on the QT/QTc Interval in Healthy Participants.

Radiofrequency Ablation for the Treatment of Pain Related to Bertolotti's Syndrome: A Case Report.

Development of 3D-Printed Congenital Heart Disease Models Using Feasible Low-Cost Workflow - A Potential Tool to Improve Pediatric Cardiology Education.

Assessment of quality of life in patients with Müllerian anomalies at a referral center in Colombia.

When the Wires Cross Twice: A Case Report of the Perioperative Management of a Pediatric Patient With Both Abdominal Cardiac and Diaphragm Pacemakers.

Bilateral cervical ribs forming pseudoarthrosis with the first ribs co-occurring with an aberrant right subclavian artery.

A Newborn With Down-Klinefelter Syndrome and Bilateral Congenital Cataracts Harboring a Novel MAPKAPK3 Mutation.

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.

Clinical Presentation and Long-Term Outcomes of Prune Belly Syndrome in a Tertiary Hospital.

Alterations in ascending aortic hemodynamics and aortic length correlate with sex-specific thoracic aortic aneurysm dilation and lifespan in a mouse model of severe Marfan syndrome.

Differences in upper airway endotype among phenotypically different pediatric OSA patients.

Once-weekly somapacitan in children with Noonan syndrome: randomized controlled phase 3 trial.

Differential Effects of DLX3 Mutations Drive Phenotypic Variability in Tricho-Dento-Osseous Syndrome via Direct Activation of WNT10A.

Beyond mobility: A prospective study on diet and metabolism in hereditary spastic paraplegia.

Do Patients With Cleft Lip and Palate Have an Increased Risk of Short-Term Complications After Le Fort I Osteotomy?

Ophthalmic Pathologies in Craniosynostosis: Risk Factors and Disparities in the United States.

"Pediatric Brown syndrome in the setting of hypercholesterolemia: case report of a possible new association".

Ten years of Zika in Brazil: achievements, challenges and perspectives.

Model informed assessment of QT prolongation during drug development: a five-year retrospective analysis of EMA scientific advices.

Myhre Syndrome Presenting With Congenital Proximal Radioulnar Synostosis: A Case Report.

Renal Ultrasound in Patients With Preauricular Skin Tags: Is It Necessary and Who Needs It?

Axenfeld Rieger Syndrome Presenting with Open Angle Glaucoma in an Adult Patient: A Case Report.

Genetic architecture and clinical features of Tourette syndrome in a child and adolescent cohort: an explorative clinical exome-based study.

Jacob's Syndrome and Hearing Loss: A Case Study.

Maternal and Perinatal Outcome in Women with Congenital Heart Disease: An Observational Study.

Bilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management.

[Kallmann syndrome in a girl caused by a novel CHD7 variant].

Estimation of the number of people with Down syndrome in Latin America and the Caribbean.

The Inheritance Puzzle: A Case of Dual Genetic Kidney Disease.

A novel variant in ARID2 causes Coffin-Siris syndrome 6 with liver cirrhosis.

Patient-derived TWNK variants recapitulate multisystem Perrault syndrome pathology in a mouse model.

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

In-Vivo Force-Length Relationship of the Medial Gastrocnemius Muscle in Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders.

Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.

Progressive non-immune hydrops fetalis associated with RASA1 mutation: prenatal imaging and genomic insights.

Newborn With Abnormal ECG and Family History of Sudden Cardiac Arrest.

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

Generation of the induced pluripotent stem cell line BTHBIOi002-A derived from a USH2 patient with c.2512C>T and c.2802T>G mutations in USH2A gene.

Silencing the Mutant KCNH2 Allele to Reduce the Effects of Long QT Syndrome Type 2.

Nomograms Based on Myocardial Strain and Myocardial Work to Predict Low Cardiac Output Syndrome in Children Undergoing Surgery for Congenital Heart Disease.

Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.

Delayed diagnosis of Waardenburg syndrome type 1 in a Syrian adult: Challenges and lessons from resource-limited settings, a case report and literature review.

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

Efficacy of bumetanide for cognitive improvement in children and adolescents with Down syndrome: study protocol of a randomised, double-blind, placebo-controlled trial.

Extracellular spike waveform analysis reveals cell type-specific changes in the superior colliculus of fragile X mice.

Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome.

Exploring the influence of risk factors on outcomes following surgical closure of ventricular septal defects.

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

In silico Analysis of CHD4 Mutations Reveals Domain-Specific Impacts on Cardiovascular Disorders Among Patients With Rare Diseases.

Tongue strength and endurance in relation to oral cavity morphology among children with Down syndrome in the permanent dentition period.

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

Laparoscopic Approach to Median Arcuate Ligament Syndrome: A Single-Center Experience.

Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.

Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.

Sleep-Disordered Breathing in Chung-Jansen Syndrome.

Application of Prenatal Whole Exome Sequencing for Congenital Heart Anomalies.

Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells.

Genetic Mapping of the 22q11.2 Deletion Syndrome (DiGeorge Syndrome) Microdeletion Types Revealed Novel Candidate Breakpoints.

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

Reassessing Benign ASXL1 Variants in Bohring-Opitz Syndrome: The Role of Population Databases in Variant Reinterpretation.

Characterisation of a Missense Variant of the Alström Syndrome Centrosome and Basal Body Associated Protein (ALMS1) Gene Associated with Cardiomyopathy Using Induced Pluripotent Stem Cells.

Multi-System Genetic Architecture of Hypermobile Ehlers-Danlos Syndrome: Integrating Machine Learning with Subject-Level Genomic Analysis.

Behavioral Features in Phelan-McDermid Syndrome: Characteristics and Genetic and Metabolic Contributions in a Cohort of 56 Individuals.

A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion.

Prenatal Diagnosis of Sex Chromosome Aneuploidies: A Retrospective Study Using QF-PCR, SNP-Based Chromosomal Microarray Analysis, and NIPT.

Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts.

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

RNAi-Induced Expression of Paternal UBE3A.

Foundations of an Ovine Model of Fragile X Syndrome.

The Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.

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

Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant.

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

Otopalatodigital Syndrome Type 2: A Case Report.

Generation of an induced pluripotent stem cell and isogenic control line from a vascular Ehlers-Danlos Syndrome (vEDS) patient harboring a pathogenic c.755G>T in the COL3A1 gene.

Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos.