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Publications by Dirk Mürbe
A C-Terminal Nonsense Mutation Links PTPRQ With Autosomal-Dominant Hearing Loss, DFNA73
Genetics in Medicine
Medicine
Genetics
Related publications
Histopathology of Nonsyndromic Autosomal Dominant Midfrequency Sensorineural Hearing Loss
Otology and Neurotology
Medicine
Otorhinolaryngology
Sensory Systems
Neurology
Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss
Annals of Otology, Rhinology and Laryngology
Medicine
Otorhinolaryngology
Loss-Of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes
Diabetes
Internal Medicine
Endocrinology
Metabolism
Diabetes
Identification of a Novel Homozygous Mutation, TMPRSS3: C.535G>A, in a Tibetan Family With Autosomal Recessive Non-Syndromic Hearing Loss
PLoS ONE
Multidisciplinary
Novel Homozygous Mutation in the MYO15A Gene in Autosomal Recessive Hearing Loss
Zahedan Journal of Research in Medical Sciences
A Gene for Fluctuating, Progressive Autosomal Dominant Nonsyndromic Hearing Loss, DFNA16, Maps to Chromosome 2q23-24.3
American Journal of Human Genetics
Genetics
A Novel FBN1 Mutation Causes Autosomal Dominant Marfan Syndrome
Molecular Medicine Reports
Oncology
Genetics
Molecular Biology
Biochemistry
Cancer Research
Molecular Medicine
A Case of Autosomal Dominant Osteopetrosis Type II With a CLCN7 Gene Mutation
JCRPE Journal of Clinical Research in Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Autosomal Dominant Amelogenesis Imperfecta Associated withENAMframeshift Mutation p.Asn36Ilefs56
Clinical Genetics
Genetics
