Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Sylvia Bähring

A Splice Mutation in a Syrian Autosomal Recessive Hypercholesterolemia Family Causes a Two-Nucleotide Deletion of mRNA

Circulation Research

Cardiovascular Medicine

English

Related publications

INPP5K Variant Causes Autosomal Recessive Congenital Cataract in a Pakistani Family

Clinical Genetics

English

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

Molecular Biology

Cancer Research

English

a Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family

G3: Genes, Genomes, Genetics

Molecular Biology

English

Mutation in Kallikrein 4 Causes Autosomal Recessive Hypomaturation Amelogenesis Imperfecta

Journal of Medical Genetics

English

Autosomal Recessive Primary Generalized Dystonia in Two Siblings From a Consanguineous Family

Movement Disorders

English

Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

Multidisciplinary

English

A Homozygous Missense Mutation in SLC25A16 Is Associated With Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family

British Journal of Dermatology

English

A Novel Splice Site Mutation in theRDXgene Causes DFNB24 Hearing Loss in an Iranian Family

American Journal of Medical Genetics, Part A

English

Identification of a Novel Homozygous Mutation, TMPRSS3: C.535G>A, in a Tibetan Family With Autosomal Recessive Non-Syndromic Hearing Loss

Multidisciplinary

English