Nonatherosclerotic Subclavian Steal Syndrome Due to Brachiocephalic Trunk Kinking in an Elderly Woman: A Case Report.

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

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

Ocular motor and vestibular examination in the unconscious patient-standard of care.

Bilateral Clubfoot in Nail-Patella Syndrome: A Rare Syndromic Case Successfully Treated with the Ponseti Method.

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

Bailout Access to an Anomalous-Origin Occluded Right Coronary Artery Using Anchor Wire Stabilization in Cardiogenic Shock.

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

Endocardial Ito-slow Overexpression and Fibrotic Remodeling Underlying Pause-Dependent Early Repolarization in Humans.

Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome.

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

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

Diagnostic Complexity in Systemic Inflammation: Adult-Onset Still's Disease.

Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.

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

Pearls & Oy-sters: SCA27B as an Elusive Genetic Cause of Episodic Neurologic Symptoms in Later Adulthood.

Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement.

Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD.

Prediction of survival after fetoscopic laser surgery for early-onset twin-to-twin transfusion syndrome.

A Pediatric Case of Stiff-Person Syndrome: Presentation and Comparative Analysis.

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

Psychotic Risk Associated With Cannabinoid Use: A Case Report of Ekbom-Like Delusional Infestation.

Association of self-stigma, impulsivity, and insomnia with anxiety and depression in patients with Kallmann syndrome.

Unilateral accessory tragi in a cat.

Extensive Type V Truncal Aplasia Cutis Congenita in a Surviving Twin With Fetus Papyraceus: A Case Report.

White matter abnormalities in an MRI-based study in Behçet's syndrome: incidental findings or clinically relevant?

A Rare Case of D-transposition of the Great Arteries (TGA) With Ventricular Septal Defect (VSD), Dysplastic Pulmonary Valve (Absent Pulmonary Valve Physiology), and Aortic Valve Stenosis in a Term Neonate.

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.

Gaps in Current Cardiometabolic Risk Assessment: A Review Supporting the Development of the C.O.R.E. Indicator Model.

Ten Questions on Using Lung Ultrasonography to Diagnose and Manage Pneumonia in Hospital-at-Home Model: Part III-Synchronicity and Foresight.

Treacher-Collins Syndrome With Anorectal Malformation: A Rarity and a Challenge for the Surgical Team.

Long Segment Coarctation of the Abdominal Aorta in a 12-Year-Old Patient: A Case Report.

[Neonatal-onset multisystem inflammatory disease in a neonate caused by a de novoNLRP3 variant].

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

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

A Case of a Right Gastric Artery Aneurysm Caused by the Collateral Flow Changes Due to the Coexistence of Median Arcuate Ligament Syndrome and a Celiac Artery Anomaly.

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.

Adams-Oliver Syndrome: A Clinical Diagnosis in the Genomic Era.

Abernethy Malformation Type Ib in a Patient With Trisomy 21: A Rare Case of Portal Vein Absence, Mesenteric Thrombosis, and Bowel Perforation.

Identification of a Novel Likely Pathogenic Variant of DIAPH3 Associated With New Phenotype of Sensorineural Hearing Loss.

"Less is More"- A Minimalistic Surgical Intervention to Correct the Right Upper Limb Deformity in an Isolated Right Radial Club Hand: A Case Report.

Importance of clinical practice guidelines for specialized delivery room resuscitation of newborns with prenatally diagnosed critical congenital heart disease.

Molecular dynamics insights into novel and nano-rare de novo mutations in the ribosomal proteins S19 and L26 causing Diamond-Blackfan anemia in Iranian patients.

Sleep in Lennox-Gastaut Syndrome: A Scoping Review.

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

Autoimmune cerebellopyramidal syndrome as a complex form of autoimmune cerebellar ataxia: a cohort study.

Acute Pericarditis in a Patient With Poland Syndrome.

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

Prenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study.

Dysmenorrhoea presentation in Herlyn-Werner-Wunderlich syndrome: A case study.

Identification of Novel and Recurrent FBN1 Gene Mutations in Two Unrelated Turkish Families with Isolated Ectopia Lentis: A Case Report with Insights from a Literature Review.

Another ciliopathy? Uncovering the ciliary basis of biliary atresia.

Autoimmune Adrenalitis in Systemic Lupus Erythematosus: Identifying a Rare Endocrine Complication.

Recommendations from the WHO guideline for the prevention, diagnosis, and treatment of infertility.

Lipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies.

Diagnosing Dysphagia in Forestier Syndrome: A Dynamic Digital Radiology Application.

Respiratory Involvement in HIST1H1E-Related Rahman Syndrome: A Case of Severe Mixed Apnea.

Novel PNPLA6 Variants: Hypogonadotropic Hypogonadism, Pituitary Hypoplasia, Anosmia, and Cerebellar Atrophy in Siblings.

Dental and Craniofacial Findings in Early Childhood in Oral-Facial-Digital Syndrome Type 1: A Case Report.

PIGA variants are associated with focal epilepsy with favorable outcome and the sub-molecular effect.

Video-Polysomnography in Peripheral Nerve Hyperexcitability: Clues to Morvan Syndrome in Two Patients and Literature Review.

Five novel EP300 variants expand the genetic and phenotypic spectrum of Rubinstein-Taybi syndrome type 2 in Chinese patients.

A Rare Autopsy Finding of Müllerian and Renal Agenesis Linked to Suspected AMHR2 Pathway Disruption.

Mayer-Rokitansky-Küster-Hauser syndrome with inguinal hernia, left renal fusion, and malrotation: a rare case.

Parry-Romberg Syndrome With Localized Scleroderma: A Report of Two Pediatric Cases From Oman.

Recommendations from the WHO guideline for the prevention, diagnosis, and treatment of infertility†.

A rare case of LORICRIN gene c.684dup mutation associated with Vohwinkel syndrome in a Turkish patient, in silico analysis and literature review.

An Unusual Case of Refractory Seizures.

Case Report: Co-occurring de novo SHANK3 and SRCAP variants in a patient with autoimmune encephalitis and exhibiting Phelan-McDermid syndrome features.

A SCN5A gene mutation (c.1768 A>C, p.K590Q) in a patient with Brugada syndrome: a case report.

A rare case report of acute severe hypokalemia induced by monosialotetrahexosylganglioside therapy.

Role and interaction of LncRNAs and insulin resistance in polycystic ovary syndrome: a narrative review.

Chronic Glomerular Thrombotic Microangiopathy in a 72-Year-Old Patient with B-Cell Chronic Lymphocytic Leukemia and IgG Lambda Paraprotein.

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

Prenatal diagnosis of a de novo pathogenic HNRNPK variant in a Chinese fetus with abnormal ultrasound soft markers: a case report.

Developing a transfer learning model for the prediction of Down syndrome from first-trimester ultrasound images.

Syndactylisation with internal bracing using a suture-button construct for severe cleft foot (Ectrodactyly): A 3-year follow-up case report.

Nailfold videocapillaroscopy abnormalities in autoimmune inflammatory myopathy subsets.

Identification of a novel de novo NONO variants causing X-linked syndromic intellectual developmental disorder-34 in a fetus.

A novel frameshift variant in the MED13 gene causing intellectual developmental disorder-61 in a Chinese family.

Ophthalmologic manifestations associated with Fukutin (FKTN) variant subtypes in Korean patients with Fukuyama congenital muscular dystrophy: a single-center retrospective case series.

Bilateral Optic Disc Coloboma with Coexisting Unilateral Retinochoroidal Coloboma in an Adolescent from Northwestern Nigeria: A Case Report.

Hypogonadotropic Hypogonadism in a Central Obesity Patient with 46, XY, t(1; 10)(q42; q24).

A novel KIDINS220 mutation associated with hereditary spastic paraplegia accompanied by severe peripheral neuropathy.

Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome.

A rare twist in ohvira syndrome: When menstrual blood takes an unusual route: A case report.

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

Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.

Lateral mandibular ridge: A unique feature of the auriculocondylar syndrome.

Emanuel Syndrome: A Case Report With Isolated Nuchal Translucency Thickening.

Exploration of a DDX3X Gene Supplementation Therapy Including Expanded Characterization and Novel Findings of Sleep Disturbances in Ddx3x Haploinsufficient Mice.

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.

Novel Variant of RARB Gene in Familial Isolated Ocular Coloboma: A Case Report.

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios.

Poland's Scoliosis: A Case Report and Literature Review.

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.

A novel COL2A1 mutation in a Chinese family with predominantly ocular Stickler syndrome.

Ophthalmological signs and sensorimotor evaluation in mitochondrial chronic progressive external ophthalmoplegia: a multidisciplinary prospective study.

Adams-Oliver syndrome: an unusual congenital disorder.

Radiological Characterization of Malformations of the Internal Auditory Canal.

PTEN hamartoma of soft tissue (PHOST) and fibroadipose vascular anomaly (FAVA): a comparative clinicopathologic and molecular analysis.

Approach to the Patient With Turner Syndrome.

Tetralogy of Fallot with absent pulmonary valve: A single center retrospective review.

Prenatal Diagnosis of Fetal Heart Malformation With Abnormal Number of Pulmonary Artery Branches as the Initial Clue.

Progressive multifocal leukoencephalopathy as a rare first manifestation of AIDS: case report.

ST-Segment-Elevation Acute Coronary Syndrome in a Patient With a Superdominant Right Coronary Artery and a Coincident Absent Left Circumflex Artery.

Disrupted Biotensegrity in the Fiber Cellular Fascial Network and Neuroma Microenvironment: A Conceptual Framework for "Phantom Limb Pain".

Identification of a novel variant in MYRF gene in a patient with 46, XX disorders of sex development.

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

Rbm8a deficiency causes hematopoietic defects by modulating Wnt/PCP signaling.

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

Genetic variations in zona pellucida glycoproteins: Implications for fertility and ART outcomes.

Diagnostic methods for managing dry eyes.

A Genetically Confirmed Case of ATR-X Syndrome Without Alpha-Thalassemia: First Case Reported From Jordan.

Genetic analysis of non-syndromic peg lateralis using whole-exome sequencing.

Phocomelia: Bilateral limb deficiency in a neonate: A case report.

Phenotypic variation in neural sensory processing by deletion size, age, and sex in Phelan-McDermid syndrome.

A case of adrenal insufficiency presenting with seizures, complicated by developmental cerebral venous anomaly and Takotsubo cardiomyopathy: a case report.

Sleep architecture and qEEG patterns in PME type 1 diagnosis.

Unilateral loss of recql4 function in Xenopus laevis tadpoles leads to ipsilateral ablation of the forelimb, hypoplastic Meckel's cartilage, and vascular defects.

Stage I twin-twin transfusion syndrome with intermittent umbilical artery Doppler abnormalities.

Dynamic progression of Wernicke encephalopathy in a gastric cancer patient: Multimodal MRI insights with arterial spin labeling perfusion imaging.

MRI-based Stratification and Surgical Management of Hydrocolpos in Children and Adolescents.

Intracardiac repair of Raghib syndrome along with ventricular septal defect closure: a successful single-surgery outcome.

Absence of Deep and Basal Veins Is Common and Clinically Relevant in Sturge-Weber Syndrome.

Case of a Middle-Aged Woman with Sick Sinus Syndrome and Cor Triatriatum Dexter.

[Clinical phenotype and genotypic analysis of a four-generation Chinese pedigree affected with Stickler syndrome and a literature review].

Excision versus division of Müllerian duct remnants in male disorders of sexual development and differentiation: a prospective study to generate anatomical assessment criteria.

A Complex Case Report of OHVIRA syndrome: Uterine didelphys, obstructed hemivagina, and renal agenesis.

A Case of Siblings with End-Stage Kidney Disease and Retinal Degeneration Suggestive of Partial Alström Syndrome.

Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar.

Zinner Syndrome Presenting With Chronic Pelvic Pain and Ejaculatory Dysfunction.

Right lower limb lymphatic aplasia in lymphoscintigraphy: a case report.

Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.

Identification of a Novel FGFR2 Gene Mutation (c.514_515delinsCT, p.Ala172Leu) in a Chinese Neonate With Apert Syndrome: A Case Report.

Origin stories of neural crest roles in craniofacial development: A tale of the meninges.

Hearing Loss Profiles in Sporadic and Familial Microtia: Clinical Insights From an Ecuadorian Cohort.

A Clinical Study of Nine Patients With ReNU Syndrome.

Dynamic electro-clinical features in Guanidinoacetate N-methyltransferase deficiency: A familial case series.

Highly Variable Expressivity of a CNV Deletion Involving TBX4 in Three Deceased Siblings With Lung Developmental Disorder and Their Mildly Affected Mother and Grandfather.

Histological differences between brachycephalic and normocephalic dog palatine tonsils.

Unusual Association of 46XY/45XO Mosaic Turner Syndrome and Mullerian Agenesis.

Clinical correlation and prognostic impact of cytogenetic clone size for myelodysplastic syndromes/neoplasm.

Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities.

Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

Identification and Functional Characterization of a Novel SOX4 Mutation Predisposing to Coffin-Siris Syndromic Congenital Heart Disease.

Chronic apathy following a major depressive episode: What is it?

Reprogramming of two induced pluripotent stem cell clones from a patient with a novel MT-ATP6/8 mutation (m.8570 T > C).

The evolving genetic landscape of neuromuscular fetal akinesias.

Incidentally Detected Transient Abnormal Myelopoeisis in a Placenta of Mosaic Down's Syndrome: A Case Report Describing Approach to Diagnosis.

The Role of First-Trimester Ultrasound in Detecting Aortic and Pulmonary Valve Agenesis: A Rare Case of Trisomy 13.

Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development.

Metformin use in women with polycystic ovary syndrome (PCOS): Opportunities, benefits, and clinical challenges.

Orthognathic Surgery of Goldenhar Syndrome Patient With Absent Bilateral Mental Foramina.

Coronary Artery Anomaly With Absent Common Iliac Artery and Genitourinary Malformation: A Rare Case Report.

A FAM8A1 frameshift variant is associated with REM sleep behavior disorder, urinary retention, and mydriasis in Russian Blue cats.

Prevalence of endometriosis in Mayer-Rokitansky-Küster-Hauser syndrome variants: a systematic review and meta-analysis.

Anesthesia for Pentalogy of Cantrell with Surgical Repair of Tetralogy of Fallot Along with Absent Diaphragm: A Case Study.

Surgical Management of a Patient With Non-Fallot-Type Absent Pulmonary Valve Syndrome.

De novo KCNK4 variant caused epilepsy with febrile seizures plus, neurodevelopmental abnormalities, and hypertrichosis.

Current Status of Pelvic Lateral Shift in Patients With Parkinson's Disease and Its Relationship With Lateral Trunk Flexion.

Perinatal outcomes in cases of umbilical-portal-systemic venous shunts: experience of a tertiary center.

Novel Compound Heterozygous Variants in ZNF526 Causing Dentici-Novelli Neurodevelopmental Syndrome: A Case Report and Literature Review.

Acute Pure Motor Cranial Polyneuropathy: A Rare Form of Guillain-Barré Syndrome.

Reconstruction of Bilateral Upper Eyelid Colobomas Using a Vertical Temporal Advancement Flap.

Ultrasound Screening in the First and Second Trimester of Pregnancy for the Detection of Fetal Cardiac Anomalies in a Low-Risk Population.

A novel NEK1 variant disturbs the interaction between the C-terminal fragment of NEK1 and the VDAC1 channel, causing lethal short-rib polydactyly syndrome.

Deletion of sf3b4 causes splicing defects and gene dysregulation that disrupt craniofacial development and survival.

Pyloric Atresia Associated With Epidermolysis Bullosa- A Case Report.

Unilateral amelia with limb deformities and multiple congenital malformations in a newborn: a case report from Palestine.

Neurologic manifestations of COVID-19 and viral test in cerebrospinal fluid.

Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 816 trios.

Manifestation of a Vestibular Schwannoma in a Patient With PHACE Syndrome.

Situs Inversus in an Infant With Hypomandibular Faciocranial Syndrome: Clinical Overlap With the Agnathia-Otocephaly Complex.

BubR1 Controls Heart Development by Promoting Expression of Cardiogenesis Regulators.

Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly.

Complete Recovery From Acute Peroneal Nerve Palsy With Neurapraxia After Prolonged Cross-Legged Sitting: Successful Conservative Management of a Foot Drop and a Brief Review of the Literature.

A case of congenital fibular hemimelia associated with skeletal and non-skeletal malformations.

Catatonia in a Patient With Lissencephaly Treated With ECT: A Case Report and Literature Review.

Magnetic resonance imaging findings in SCN1A-related epilepsies and Dravet syndrome: A systematic review.

Hydranencephaly: exploring the role of CT features in the diagnosis of 22 cases.

Diagnosing failure to thrive: 22q11.2 deletion syndrome in identical twins.

Spinal Cord Infarction Presenting with Abnormal F Waves.

A Novel Homozygous Variant in CPLANE1 Gene in a Patient with Developmental Deficits.

A Novel Report of Müllerian (Vaginal/Uterine) Agenesis in a Newborn Girl With LUMBAR Syndrome.

Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2-Associated Syndrome.

Chronic Cough, Dyspnea, and a Novel CCDC39 Variant: A Case Report of Heterotaxy Syndrome Without Cardiac Anomalies and Associated Primary Ciliary Dyskinesia.

Knockout of dhx38 Causes Inner Ear Developmental Defects in Zebrafish.

Exploring the Association Between Third Molar Agenesis and Carabelli Traits: A Cross-Sectional Study.

Novel Syndrome With Congenital Thumb Aplasia, Epilepsy, Cognitive Impairment, and Myopathy: A Case Report.

Clinical presentation of hemifacial microsomia in a South African population.

Comparison of Sphenoid Sinus Morphology in Bilateral Cleft Lip and Palate and Control Groups: A CBCT Study.

Tetralogy of Fallot with absent pulmonary valve syndrome and severe diffuse tracheobronchomalacia in an infant: the value of modified Lecompte manoeuver and reduction pulmonary arterioplasty.

Systematic Ultrasound Evaluation of Olfactory Sulci in Fetuses with Congenital Heart Defects: A Clue for CHARGE Syndrome Diagnosis.

Retroperitoneal Müllerian cyst causing uterine protrusion in a teenage girl.

Poincaré plot analysis of electrocardiogram uncovers beneficial effects of omaveloxolone in a mouse model of Friedreich's ataxia.