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Nature (London), ISSN 1476-4687, 2011, Volume 478, Issue 7367, pp. 57 - 63
Journal Article
Human Mutation, ISSN 1059-7794, 06/2017, Volume 38, Issue 6, pp. 621 - 636
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2018, Volume 55, Issue 8, pp. 555 - 560
BackgroundHearing loss is a genetically and phenotypically heterogeneous disorder.ObjectivesThe purpose of this study was to determine the genetic cause... 
non-syndromic hearing loss | splice-site | deafness | ceacam16 | TECTORIAL MEMBRANE | THERAPY | MUTATION | DISEASE | GENETICS & HEREDITY | OTOACOUSTIC EMISSIONS | ANTISENSE OLIGONUCLEOTIDES | FAMILY | Deafness | Phenotypes | Splicing | Genomics | Genes | Otolaryngology | Data processing | mRNA | Genomes | Hearing impairment | Hearing loss | Databases | Auditory system | Mutation | Bioinformatics | Binding sites
Journal Article
Human mutation, ISSN 1059-7794, 2018, Volume 39, Issue 3, pp. 433 - 440
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2015, Volume 10, Issue 8, p. e0129631
Journal Article
Journal Article
Molecular psychiatry, ISSN 1476-5578, 2018, Volume 24, Issue 7, pp. 1027 - 1039
Journal Article
Journal Article
Archives of Iranian Medicine, ISSN 1029-2977, 04/2018, Volume 21, Issue 4, pp. 170 - 179
...Arch Iran Med. April 2018;21(4):170-179 Review Article Calpains: Diverse Functions but Enigmatic Masoumeh Hosseini, MSc1; Hossein Najmabadi, PhD1*; Kimia... 
Calpains | Physiological processes | Pathological processes | Disorders | ACTIVATION | CAPN10 GENE | CLEAVAGE | DEGENERATION | CA2+-DEPENDENT PROTEOLYSIS | ADHESION DYNAMICS | MEDICINE, GENERAL & INTERNAL | INHIBITION | CELL-MIGRATION | MEDIATED PROTEOLYSIS | MOLECULAR-MECHANISMS
Journal Article
Archives of Iranian Medicine, ISSN 1029-2977, 01/2018, Volume 21, Issue 1, pp. 29 - 40
... Najmabadi, PhD1; Kimia Kahrizi, MD1* 1Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran Received: June 3, 2017, Accepted... 
Ciliogenesis | Ataxia | Mitochondria | Ion channels | Intellectual disability | CONGENITAL CEREBELLAR-ATAXIA | PRIMARY CILIUM | JOUBERT-SYNDROME | MEDICINE, GENERAL & INTERNAL | LINKED MENTAL-RETARDATION | EAST SYNDROME | NUCLEOTIDE EXCHANGE FACTOR | RHO GTPASES | MUTATIONS | SNX14 CAUSE | BRAIN
Journal Article
Human Mutation, ISSN 1059-7794, 12/2014, Volume 35, Issue 12, pp. 1427 - 1435
Journal Article