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Publications by Anna E. Brassington

A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome

American Journal of Human Genetics

English

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Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

English

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

American Journal of Medical Genetics, Part A

English

A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family

BioMed Research International

Molecular Biology

English

A Novel COCH Mutation, V104del, Impairs Folding of the LCCL Domain of Cochlin and Causes Progressive Hearing Loss

Journal of Medical Genetics

English

A Novel FBN1 Mutation Causes Autosomal Dominant Marfan Syndrome

Molecular Medicine Reports

Molecular Biology

Cancer Research

Molecular Medicine

English

Hearing Loss in a Patient With the Myopathic Form of Mitochondrial DNA Depletion Syndrome and a Novel Mutation in the TK2 Gene

Pediatric Research

English

Novel Homozygous Mutation in the MYO15A Gene in Autosomal Recessive Hearing Loss

Zahedan Journal of Research in Medical Sciences

English

Mutation of COL11A2 Causes Autosomal Recessive Non-Syndromic Hearing Loss at the DFNB53 Locus

Journal of Medical Genetics

English

Congenital Hearing Loss in Down Syndrome

Journal of Pediatrics

English