Autosomal Dominant Inheritance - Genetic Mutations

Relevant Publications

Mode of inheritance for pesticide resistance, importance and prevalence: A review.

Issue Release: 2024

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

Issue Release: 2024

The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy.

Issue Release: 2024

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

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

Huntingtin lowering impairs the maturation and synchronized synaptic activity of human cortical neuronal networks derived from induced pluripotent stem cells.

Issue Release: 2024

Novel de novo heterozygous CACNA1A gene variant in generalised dystonia: a case report.

Issue Release: 2024

Autosomal Dominant, Long-Standing Dysglycemia in 2 Families with Unique Phenotypic Features.

Issue Release: 2024

Acute Cholecystitis in a Patient With Situs Inversus.

Issue Release: 2024

B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.

Issue Release: 2024

[Genetic analysis of a Chinese pedigree affected with Brachydactyly type B1 due to a novel variant of ROR2 gene].

Issue Release: 2024

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Issue Release: 2024

Mechanisms of synapse-to-nucleus calcium signalling in striatal neurons and impairments in Huntington\'s disease.

Issue Release: 2024

Brugada syndrome: a review and the role of epicardial ablation in management.

Issue Release: 2024

Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation.

Issue Release: 2024

Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotype.

Issue Release: 2024

Autosomal dominant Weill-Marchesani-like syndrome in a Chinese family due to novel haplotypic mutations in LTBP2.

Issue Release: 2024

De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia.

Issue Release: 2024

A clinical predictive model for live birth in women of advanced age undergoing PGT cycles.

Issue Release: 2024

The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy.

Issue Release: 2024

Why are Non-Coding Regions Important?

What are the Challenges in Cancer Genomics?

How Does Genetic Testing Help in Managing Cystic Fibrosis?

What are Inversions?

How do Environmental Factors Influence Genetic Mutations?

What are the Symptoms and Complications?

What is the Role of Genetic Counseling?

How is Third Generation Sequencing Used in Research and Medicine?

What are Viral Vectors?

How Does UV Radiation Cause Genetic Mutations?

Partnered Content Networks

Relevant Topics