Trifurcation of the sciatic nerve. Short bifurcation of the common fibular nerve in the high gluteal region: a case study.

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

The pathogenic ADAMTSL2 D167N variant causes geleophysic dysplasia-like connective tissue changes in mice.

Short-, Medium-, and Long-Term Cardiometabolic Outcomes in First-Episode Psychosis: A Systematic Review and Meta-analysis.

A High-Potency Protein That Normalizes Body Weight in DIO Mice through Triple Agonism at FGF21, GLP1, and GIP Receptors.

Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.

New insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.

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

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

[Guidelines for the diagnosis and treatment of obstructive sleep apnea in adults (2025)].

Successful anesthesia management for middle cerebral artery thrombectomy in a patient with asynchronous cardio-cerebral infarction: a case report.

Efficacy and tolerability of early assessment of epileptic spasms to guide sequential treatment in children with infantile epileptic spasms syndrome:A nested case-control Study.

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

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

Cervical diastematomyelia in a patient with Pierre-Robin syndrome - A case report.

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

Twin paradox: Monoamniotic twin pregnancy discordant for limb body wall complex: Presentation of a rare syndrome with a review of embryology.

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

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

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

Emerging role of KDM5C in X-linked intellectual disability based on human genetic data and zebrafish models.

Refractory Rickets: Evaluation and Management.

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

Chinese medicine syndrome differentiation-kidney deficiency syndrome (KDS) for women during pregnancy: Delphi expert consensus on a self-reported KDS symptoms scale followed by psychometric properties evaluation.

BMI-stratified phenotypes of polycystic ovary syndrome: advances in gut microbiota research and personalized management strategies.

Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.

Failure of Direct Oral Anticoagulation in Preventing Left Ventricular Thrombus Progression After Myocardial Infarction: A Case Report.

Neuronal Heterotopy in a Patient with Wiedemann-Steiner Syndrome Caused by a Truncating KMT2A Variant: Clinical and Genetic Correlations.

Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review.

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

Novel ocular feature in oculoskeletodental syndrome: high axial myopia and megalocornea in a child with a homozygous PIK3C2A variant.

A novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report.

Diagnostic odyssey of a male with 45,X/46,XY mosaicism: case report and review of the literature.

Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene.

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice.

Management of an infant with prune belly syndrome under caudal anaesthesia undergoing laparoscopic surgery.

Olezarsen and Beyond: Emerging Targeted Treatments for Familial Chylomicronemia Syndrome and Related Triglyceride Disorders.

A rare case of mosaic partial tetrasomy 18p presenting with oligomenorrhea and intellectual disability: a case report.

Successful Treatment of Multifocal Demyelinating Sensory-Motor Neuropathy (Lewis-Sumner Syndrome) With Rituximab: A Case Report.

Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation.

[Clinical characteristics and prenatal diagnosis of a fetus with Short-rib thoracic dysplasia syndrome due to variants of DYNC2H1 gene].

A novel homozygous ADAMTS10 frameshift variant in Weill-Marchesani syndrome in a Chinese family.

PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report.

Primary Repair of a Jejunal Atresia With Christmas Tree Deformity in a Preterm Infant.

Obesity-induced cognitive impairment: Underlying mechanisms and therapeutic prospects.

Multi-omics elucidation of Lactiplantibacillus plantarum NKK20 in preventing PCOS via the gut-ovary axis: SCFAs-mediated microbiota-metabolite-immune crosstalk.

The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature.

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

Clinical characterization and analysis of the POLE gene in three Chinese patients with IMAGEI syndrome.

Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.

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.

Prenatal Diagnosis of a Feingold Syndrome Pregnancy Complicated with Severe Preeclampsia: A Report of a Challenging Case.

Klippel-Feil syndrome presenting as posterior circulation stroke in a paediatric patient.

Allopurinol-induced drug reaction with eosinophilia and systemic symptoms syndrome in a patient with previous nephrectomy: a case report.

The gut microbiota-brain-CAR T cell axis: a systematic review of gut microbiome modulation and its impact on neurological complications and treatment responses in CAR T cell therapy.

Cardiovascular abnormalities in multisystem inflammatory syndrome in children related to COVID-19.

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.

Rps19 R67∆ mutation creates a model of Diamond-Blackfan anemia and reveals downstream mediators of p53 pathway.

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient.

Entirely Right-Sided Colon: A Case Report.

Idiopathic isolated bilaterally symmetrical brachymetacarpia of the fifth metacarpal in a woman with rheumatoid arthritis.

Prenatal Shwachman-Diamond Syndrome: Diagnostic Challenges in Two Unrelated Cases With a Rare Clinical Presentation and Pseudogene Interference, and a Review of the Literature.

Diagnostic yield of genetic testing in children with short stature: a systematic review.

The Use of Lorazepam for Acute Episodes in a Patient with Kleine-Levin Syndrome: A Longitudinal Case Report.

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

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

Acoustically Evoked Short Latency Negative Response and Vestibule Function in Patients With Enlarged Vestibular Aqueduct.

Novel characterization of MRAS mutation-associated Noonan syndrome: Mild adult-onset hypertrophic cardiomyopathy combined with infective endocarditis: A case report.

[A rare case of adrenal hemangioblastoma and literature review].

Hidden in Plain Sight: A Rare 7q Deletion Masquerading as a Common Aneuploidy on Prenatal Ultrasound.

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

Pediatric floating-harbor syndrome: clinical features and treatment outcomes in a cohort of Chinese children.

An Overview of Vaginoplasty Techniques: Spotlight on the Efficacy of the Horseshoe Labia Minora Flap.

Dual-Genetic Etiology in an Atypical Dent Disease Phenotype Which Combines Features of Focal Segmental Glomerulosclerosis and Ellis-Van Creveld-Like Syndrome: A Case Report.

Hematological Conditions in Infants With Trisomy 21.

An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families.

Genetic Heterogeneity Underlying Familial Short Stature.

Diabetes mellitus in SHORT syndrome managed with multi-agent oral therapies: a case report and literature review.

Prognostic value of GFAP and UCHL-1 biomarkers in high-risk mild traumatic brain injury: A prospective longitudinal study of short- and long-term outcomes.

Impact of Diane-35 on Hormone Levels and Pregnancy Outcomes in Patients with Polycystic Ovary Syndrome: A Retrospective Analysis.

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.

3-M syndrome: evolution of the phenotype over time.

Cardiac Postpneumonectomy Syndrome.

Heterozygous loss of OSR2 can cause radioulnar synostosis with ancillary skeletal manifestations.

Pyometrocolpos: A Case Series and Proposed Management Framework for the Pediatric Infectious Diseases Consultant.

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

A man in his 30s with cardiac arrest.

Outcomes of Patients With Arrhythmia During Single-Ventricle Palliation.

Parents' Experiences and Needs in Home Nutritional Management of Children With Short Bowel Syndrome: A Qualitative Study.

A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum.

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

Phenotypic Analysis of Embryos in a Noonan Syndrome Model Mouse With the Rit1 A57G Mutation.

Graph-spa: A Spatiotemporal Graph Neural Network based framework for ARDS prediction and interpretability.

Children and adolescents with DiGeorge syndrome are short in early infancy but develop excess weight in adolescence: a retrospective study.

The effect of beverages containing caffeine on the tear film parameters: An observational study.

Respiratory syncytial virus immunoprophylaxis: an underutilized preventive strategy in children with Down syndrome.

Heterogeneity of Orodental Features in a Family with Noonan Syndrome.

Radiation therapy alleviates Doege-Potter syndrome accompanied with severe aortic valve insufficiency: a case report and literature review.

The acid-base balance homeostasis reflected by urine pH in children with infantile epileptic spasm syndrome may be associated with response to adrenocorticotropic hormone treatment: a retrospective cohort study.

Aortic recoarctation among infants: risk factors and the significance of catheter-based intervention in the treatment.

Clinical and Genotypic Insights into Turner Syndrome: Emphasis on Cardiovascular Abnormalities.

Epidural Anesthesia in a Patient With Turner Syndrome: A Case Report.

Mitral Regurgitation in Takotsubo Syndrome: A Comprehensive Narrative Review.

Advances in research on congenital and hereditary intestinal diseases: From molecular mechanisms to precision medicine.

Mucopolysaccharidosis or Skeletal Dysplasia?: Important Clinical and Radiologic Clues for Differential Diagnosis of Based on Difficult Cases.

Short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) syndrome: report of a case lacking neutrophil morphologic changes and review of literature.

Temporal Bone CT Findings in Hajdu-Cheney Syndrome: Case Report with Review of the Literature.

3M syndrome in Saudi Arabia: a case series study and literature review.

Two Decades Later: Long-Term Multisystem Sequelae and Subclinical Organ Dysfunction in Sudan Ebola Virus (SUDV) Survivors of the 2000 Outbreak.

Altered Short Non-Coding RNA Landscape in the Hippocampus of a Mouse Model of CDKL5 Deficiency Disorder.

CRISPR as a Tool to Uncover Gene Function in Polycystic Ovary Syndrome: A Literature Review of Experimental Models Targeting Ovarian and Metabolic Genes.

Risk of Coronary Artery Disease Associated With Transitions in Metabolic Health in a Clinical Cohort of 69 272.

Triage and care for women with symptoms or diagnosis of pregnancy loss between 14 + 0 and 21 + 6 weeks' gestation.

Genotype-phenotype correlations in 9q34.3 microdeletion syndrome: a study of 35 Mainland Chinese patients.

High incidence of stillbirths in a free farrowing system linked to uterotonic misuse and improper farrowing management: a case report.

Decadelong low basal ganglia NAA/tCr from elevated tCr supports ATP depletion from mitochondrial dysfunction and neuroinflammation in Gulf War illness.

Crowned dens syndrome combined with cervical disc herniation: A case report and literature review.

Deficiency of anterior pituitary hormones in Noonan syndrome and its impact on response to growth hormone therapy.

Personalized Treatment in Rare Genetic Syndromes: A Case-Report in Witteveen-Kolk Syndrome (SIN3A).

Cardiac safety of low-dose ACTH therapy in infantile spasms: Evidence from electrocardiography and advanced echocardiography.

Spontaneous Pregnancy in Genetically Confirmed 11-Beta Hydroxylase Deficiency: A Case Series and Literature Review.

3M syndrome with novel CUL7 variants in a Chinese patient: a case report.

A rare case of H syndrome with severe multisystem involvement: Clinical challenges in low-resource healthcare settings.

KBG syndrome complicated with chylothorax in a newborn: a case report and literature review.

Optic nerve changes in PTPN11-related Noonan syndrome.

Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details on PTPN11 c.922A>G Variant and Phenotypic Spectrum.

Renal Hypoplasia and Oligomeganephronia in a Fetus with Wolf-Hirschhorn Syndrome.

Dilated cardiomyopathy in Rubinstein-Taybi syndrome: A case report and mini-review of the literature.

Structural and functional impact of the POLD1 Ser605del variant in MDPL syndrome: insights from protein-protein interactions.

An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl.

Syndrome of the Month: An Update on Smith-Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature.

Idiopathic hypereosinophilic syndrome complicated by computed tomography-negative cerebral infarction, strangulated intestinal obstruction, and hepatic portal venous gas: a case report of multi-system involvement.

Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndrome.

First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.

Anesthetic Management During Post-tonsillectomy Hemorrhage in a Child With Noonan Syndrome: A Case Report.

Prenatal Diagnosis of Rubinstein-Taybi Syndrome-Reporting Twelve Cases of a Rare Disease.

Microbiome modulation as a therapeutic strategy for alcohol-induced gut dysbiosis and associated disorders.

Marine-Based Omega-3 Fatty Acids and Metabolic Syndrome: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.

Unique Features and Collateral Immune Effects of mRNA-LNP COVID-19 Vaccines: Plausible Mechanisms of Adverse Events and Complications.

Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants.

Anesthetic management in a child with Meier-Gorlin syndrome: a case report.

Bone Marrow Failure Associated With Short Telomeres and Digenic Variants of Uncertain Significance in Telomere Biology Genes.

7p21.1 Microdeletion Encompassing the ACTB Gene in a Japanese Child: Longitudinal Clinical and Neuroimaging Findings.

Immune mechanisms in chronic kidney disease-mineral and bone disorder: current insights and therapeutic implications.

Diagnosis of naturally occurring canine hypercortisolism: survey of Australian veterinarians.

Cardiac manifestations in children and adolescents diagnosed with pediatric multisystem inflammatory syndrome related to COVID-19.

ITCH Deficiency Causing Immunodeficiency and Immune Dysregulation.

Clinical and genetic findings in 103 individuals in Norway with basal cell naevus syndrome.

Therapeutic perspective of postbiotics in managing health of women with polycystic ovarian syndrome: a holistic approach.

Spinal Anomalies in MURCS Association: A Rare Case Report and Systematic Review of the Literature.

[Clinical features and variant spectrum of FGFR3-related disorders].

Clinical and Prognostic Implications of Precipitating Factors in Patients With Spontaneous Coronary Artery Dissection.

Necrotizing Enterocolitis Due to Mesenteric Artery Thrombosis in a Patient with Craniofrontonasal Dysplasia: Casual or Causal Association?

Skeletal involvement in tumor-induced osteomalacia.

A Complex Case of Koolen-De Vries Syndrome Associated with Hypopituitarism and Type 1 Diabetes Mellitus.

Genetic heterogeneity in pediatric short stature: insights from whole exome sequencing and snp- array analyses in a Turkish cohort.

Familial 3M Syndrome - as an Example of Diagnostic Difficulties in Rare Genetic Syndromes.

New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical Report.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Aphasia following tibial fracture surgery: A case report.

Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients.

Sleep Disturbances in Patients With Cushing Syndrome and Mild Autonomous Cortisol Secretion: A Cross-sectional Study.

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Per- and polyfluoroalkyl substances (PFAS) disrupt gut microbiome composition and metabolism in metabolic syndrome: Evidence from a host-free in vitro colonic model.

Identification of potential causative gene of anorectal malformation : Short title: causative gene of anorectal malformation.

Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and skin phenotypes.

A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R.

A case series of OMI: time for revisiting STEMI/NSTEMI ECG criteria.

Deaths: Leading Causes for 2023.

Femoral versus acetabular osteotomy for treating combined version deformities leading to femoroacetabular impingement: a case-control matched study.

Delayed Presentation With Atypical Extrathyroidal Manifestations of Sporadic Non-autoimmune Congenital Hyperthyroidism: A Case Report and Literature Review.

Letrozole at the Crossroads of Efficacy and Fetal Safety in Ovulation Induction: A Narrative Review.

Rare features in Feingold syndrome type 1.

Prenatal Ultrasound Diagnosis of Binder Phenotype: Case Series of Seven Patients and Literature Review.

Genomic Insights into Short Stature in Children Born Small for Gestational Age: A Korean Multicenter Exome Study.

FLNA Variants Related to Melnick-Needles Syndrome: Two Mexican Case Reports and a Comprehensive Variant Review.

Familial translocation between chromosomes 3 and 10: meiotic segregation, diagnostics and clinical features of chromosomal imbalance.

Association Between Age and Outcomes for Children Undergoing Tethered Cord Release: A National Study.

Delays in Diagnosis Are Common Among Hip Preservation Surgical Candidates: A Systematic Review.

Christmas tree pattern ileal atresia with intestinal malrotation in a 15-day-old infant: A rare dual congenital anomaly in the pediatric population - A case report.

Approach to the Patient With Turner Syndrome.

Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients.

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Neurological and neuropsychological correlates of Klippel-Feil syndrome.

Turner syndrome with pulmonary arteriovenous malformation: a case report.

[Non-invasive prenatal screening in three cases of vanishing twin syndrome and a literature review].

Longitudinal analysis of age-dependent phenotypes in hemizygous male and heterozygous female Cdkl5 mutant mice.

[A case of lung poorly differentiated squamous cell carcinoma-associated retinopathy].

Genetic diagnosis and clinical characteristics analysis of cardiospondylocarpofacial syndrome in a Chinese family.

De Novo GLI2 Missense Variant in a Child With Isolated Hypopituitarism and Craniofacial Anomalies: Expanding the Phenotypic Spectrum.

A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.

Identification of a novel de novo AFF4 variant (c.778A>G) associated with CHOPS syndrome.

Klippel-Feil syndrome revealed by post-traumatic neck pain: Case report and literature review.

Two Years of Growth Hormone Therapy in a Child with Severe Short Stature Due to Overlap Syndrome with a Novel SETD5 Gene Mutation: Case Report and Review of the Literature.

Autoimmune thyroid disease and pituitary adenoma in a female patient with 18p deletion syndrome: a case report and review of the literature.

Case Report: Identification of a novel hemizygous missense RPL10 gene variant in two unrelated patients.