Autosomal Dominant Disorder - Neonatal Disorders

Relevant Publications

G-quadruplex stabilization provokes DNA breaks in human PKD1, revealing a second hit mechanism for ADPKD.

Issue Release: 2025

Familial adenomatous polyposis family with clustering of psychiatric disorders.

Issue Release: 2025

Clinicopathological features of Lynch syndrome pedigrees with MSH2 c.351G>A gene variant.

Issue Release: 2025

Dentatorubral pallidoluysian atrophy with cognitive impairment, epilepsy, movement disorders, and psychosis - a case.

Issue Release: 2025

Limited Reconstructive Options of Jaw Osteomyelitis in the Osteopetrosis Patient Complicated by Blood Dyscrasia.

Issue Release: 2025

Translational regulation of PKD1 by evolutionarily conserved upstream open reading frames.

Issue Release: 2025

Differential diagnosis of Huntington\'s disease- neurological aspects of NKX2-1-related disorders.

Issue Release: 2024

A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia.

Issue Release: 2024

Subpial resection of epileptogenic tubers: operative nuances and lessons learned.

Issue Release: 2024

Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in .

Issue Release: 2024

Hereditary Hemorrhagic Telangiectasia with Recurrent Epistaxis, Telangiectasia, Hepatic Arteriovenous Malformation, and a Poorly Developed Middle Cerebral Artery in a Patient with a Novel Mutation in the ACVRL1 Gene.

Issue Release: 2024

NF1 miniswine model the cellular disruptions and behavioral presentations of NF1-associated cognitive and motor impairment.

Issue Release: 2024

Rescue of Scn5a mis-splicing does not improve the structural and functional heart defects of a DM1 heart mouse model.

Issue Release: 2024

Retrospective identification of the first cord blood-transplanted severe aplastic anemia in a -associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background.

Issue Release: 2024

Cellular and functional evaluation of LDLR missense variants reported in hypercholesterolemic patients demonstrates their hypomorphic impacts on trafficking and LDL internalization.

Issue Release: 2024

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations in conjunction with systemic lupus erythematosus: Missed diagnosis or misdiagnosis?

Issue Release: 2024

Severe Developmental Delay and Behavior Abnormalities in a Patient with De Novo CAMK2B Mutation: A Case Report and Literature Review.

Issue Release: 2024

Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex.

Issue Release: 2024

Studying the Effect of the Host Genetic Background of Juvenile Polyposis Development Using Collaborative Cross and Knock-Out Mouse Models.

Issue Release: 2024

Update on the Application of Ultrasonography in Understanding Autosomal Dominant Polycystic Kidney Disease.

Issue Release: 2024

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Autosomal Dominant Disorder - Neonatal Disorders

Relevant Publications

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