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Publications by Bridget Fernandez
Profound, Prelingual Nonsyndromic Deafness Maps to Chromosome 10q21 and Is Caused by a Novel Missense Mutation in the Usher Syndrome Type IF Gene PCDH15
European Journal of Human Genetics
Genetics
Related publications
A Novel Missense Mutation p.L76P in the GJB2 Gene Causing Nonsyndromic Recessive Deafness in a Brazilian Family
Brazilian Journal of Medical and Biological Research
Immunology
Cell Biology
Pharmacology
Biochemistry
Biophysics
Neuroscience
Medicine
Toxicology
Physiology
Pharmaceutics
A Novel Locus for Autosomal Dominant Nonsyndromic Hearing Loss, DFNA50, Maps to Chromosome 7q32 Between the DFNB17 and DFNB13 Deafness Loci
Journal of Medical Genetics
Genetics
Mapping of a Novel Autosomal Recessive Nonsyndromic Deafness Locus (DFNB46) to Chromosome 18p11.32-P11.31
American Journal of Medical Genetics, Part A
Genetics
A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia
Reproductive Sciences
Gynecology
Obstetrics
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene
JCRPE Journal of Clinical Research in Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma With Deafness
American Journal of Pathology
Forensic Medicine
Pathology
Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1
American Journal of Human Genetics
Genetics
Long QT Syndrome With Nocturnal Cardiac Events Caused by a KCNH2 Missense Mutation (G604S)
Internal Medicine
Internal Medicine
Medicine
Mutations of Cx26 Gene (GJB2) for Prelingual Deafness in Taiwan
European Journal of Human Genetics
Genetics
