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Pflugers Archiv European Journal of Physiology, ISSN 0031-6768, 07/2010, Volume 460, Issue 2, pp. 361 - 374
Journal Article
Klinische Monatsblatter fur Augenheilkunde, ISSN 0023-2165, 03/2018, Volume 235, Issue 3, pp. 258 - 263
Journal Article
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 06/2018, Volume 20, Issue 6, pp. 614 - 621
Purpose: Hearing loss is genetically extremely heterogeneous, making it suitable for next-generation sequencing (NGS). We identified a four-generation family... 
nonsense mutation | PROTEIN | PTPRQ | DFNB84A | IDENTIFICATION | PREDICTION | autosomal-dominant hearing loss | MESSENGER-RNA | GENE | SEQUENCE | DISEASE | GENETICS & HEREDITY | deafness | INOSITOL LIPID PHOSPHATASE | PROGRAM | TOOL | Hearing impairment | Mutation | deafness; DFNB84A | Original
Journal Article
Pflügers Archiv - European Journal of Physiology, ISSN 0031-6768, 7/2010, Volume 460, Issue 2, pp. 361 - 374
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 09/2012, Volume 7, p. 59
Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa... 
Homozygote | Usher Syndromes - genetics | Pedigree | Humans | Female | Male | Polymorphism, Single Nucleotide | Codon, Nonsense | Sequence Analysis, DNA - methods | Monoacylglycerol Lipases - genetics | Genetic Linkage
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 03/2008, Volume 29, Issue 3, pp. 452 - 452
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2011, Volume 121, Issue 7, pp. 2662 - 2667
Journal Article
Pflugers Archiv: European Journal of Physiology, ISSN 0031-6768, 07/2010, Volume 460, Issue 2, p. 361
Voltage-gated Ca.sup.2+ channels couple membrane depolarization to Ca.sup.2+-dependent intracellular signaling events. This is achieved by mediating Ca.sup.2+... 
Genetic disorders | Pharmacy | Paralysis
Journal Article
Journal Article
Journal Article