Two novel beta-thalassemia alleles: poly A signal (AATAAA-->AAAA) and -92 C-->T

Analysis of factor VIII gene inversion mutations in 166 unrelated haemophilia A families: frequency and utility in genetic counselling.

Haemophilia : the official journal of the World Federation of Hemophilia·2016

Current topics in genome evolution: molecular mechanisms of new gene formation.

Cellular and molecular life sciences : CMLS·2006

A single adeno-associated virus (AAV)-murine factor VIII vector partially corrects the hemophilia A phenotype.

Journal of thrombosis and haemostasis : JTH·2003

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.

Human mutation·2001

Twin priming: a proposed mechanism for the creation of inversions in L1 retrotransposition.

Genome research·2001

Biology of mammalian L1 retrotransposons.

Annual review of genetics·2001

Conventional and Shared Genetic Association Analysis Between Diabetes Mellitus and Sensorineural Hearing Loss.

Human mutation·2026

Clinical and Genetic Spectrum of Large AIP Deletions.

Human mutation·2026

A Novel Technique for Validating Copy Number Variants and Its Application in Familial Exudative Vitreoretinopathy.

Human mutation·2026

Identification of COPZ1 as a Shared Candidate Ferroptosis-Related Hub Gene in Periodontitis and Inflammatory Bowel Disease.

Human mutation·2026

The Charcot-Marie-Tooth Neuropathy (CMTX3) Complex Structural Variation Causes Differential SOX3 Spatiotemporal Expression.

Human mutation·2026

Bayesian Integration of Tumor Mutational Signatures and Somatic Features Refines Pathogenicity Assessment of Germline Mismatch Repair Variants.

Human mutation·2026

Getting out of hand: niche construction theory and a multiplicity of handedness.

Laterality·2026

Accelerated biological ageing is associated with a large drusen burden.

Acta ophthalmologica·2026

Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis.

Molecular genetics & genomic medicine·2026

The genome sequence of Frangula alnus Mill., 1768 (Rosales: Rhamnaceae).

Wellcome open research·2026

Body composition, geography and ethnicity: understanding the associations with health.

European journal of clinical nutrition·2026

Human hair aging beyond graying: A case-comparative biointerface phenotype from a 104-year-old donor.

Colloids and surfaces. B, Biointerfaces·2026

Related Experiment Videos

Two novel beta-thalassemia alleles: poly A signal (AATAAA-->AAAA) and -92 C-->T

Related Concept Videos

Analysis of factor VIII gene inversion mutations in 166 unrelated haemophilia A families: frequency and utility in genetic counselling.

Current topics in genome evolution: molecular mechanisms of new gene formation.

A single adeno-associated virus (AAV)-murine factor VIII vector partially corrects the hemophilia A phenotype.

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.

Twin priming: a proposed mechanism for the creation of inversions in L1 retrotransposition.

Biology of mammalian L1 retrotransposons.

Conventional and Shared Genetic Association Analysis Between Diabetes Mellitus and Sensorineural Hearing Loss.

Clinical and Genetic Spectrum of Large AIP Deletions.

A Novel Technique for Validating Copy Number Variants and Its Application in Familial Exudative Vitreoretinopathy.

Identification of COPZ1 as a Shared Candidate Ferroptosis-Related Hub Gene in Periodontitis and Inflammatory Bowel Disease.

The Charcot-Marie-Tooth Neuropathy (CMTX3) Complex Structural Variation Causes Differential SOX3 Spatiotemporal Expression.

Bayesian Integration of Tumor Mutational Signatures and Somatic Features Refines Pathogenicity Assessment of Germline Mismatch Repair Variants.

Getting out of hand: niche construction theory and a multiplicity of handedness.

Accelerated biological ageing is associated with a large drusen burden.

Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis.

The genome sequence of Frangula alnus Mill., 1768 (Rosales: Rhamnaceae).

Body composition, geography and ethnicity: understanding the associations with health.

Human hair aging beyond graying: A case-comparative biointerface phenotype from a 104-year-old donor.

Related Experiment Videos

Two novel beta-thalassemia alleles: poly A signal (AATAAA-->AAAA) and -92 C-->T

Related Concept Videos

Related Articles