about
Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexinsA deletion involving the connexin 30 gene in nonsyndromic hearing impairmentHearing is normal without connexin30A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairmentPrevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairmentThe DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.Genetics of isolated auditory neuropathies.DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.Is granulomatous mastitis a localized form of hidradenitis suppurativa?Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel
P50
Q24311880-E5C9B135-2B48-47C6-8BEB-767899E1E9FAQ28216378-02C8549A-B43D-4188-B2A1-1C60C80138A9Q28283001-F2FAD239-E7AA-453C-9CA0-14EF5EAE814FQ28536919-C39CC592-CEEA-4508-A746-BBD32FD3BB0FQ33905363-7E783724-5D19-446F-937B-8FE233A84573Q34467709-2D44CC9B-1F8E-465F-9B56-7B7EA4D0ED2DQ36365685-B16763D9-2153-435E-B46E-036F1DE87F1FQ37881678-0A176A6D-2F90-4060-95CE-4B1380E26F2EQ37971564-0A8626FC-5277-40AA-955D-596FE11819D2Q47222280-0BEE6696-244D-4260-AE58-E54B042284C3Q47367429-527C6952-697E-401E-8683-930738D94AF2Q54187428-00089BA9-F0B3-494B-8A82-661F825E53CDQ84070958-56F7B734-2D57-46AE-992E-4AAF1B4F90F7Q89769213-E9C7FC87-2EE6-465F-B192-B8A7522D9AC0
P50
description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Francisco J del Castillo
@ast
Francisco J del Castillo
@en
Francisco J del Castillo
@es
Francisco J del Castillo
@nl
Francisco J del Castillo
@sl
type
label
Francisco J del Castillo
@ast
Francisco J del Castillo
@en
Francisco J del Castillo
@es
Francisco J del Castillo
@nl
Francisco J del Castillo
@sl
prefLabel
Francisco J del Castillo
@ast
Francisco J del Castillo
@en
Francisco J del Castillo
@es
Francisco J del Castillo
@nl
Francisco J del Castillo
@sl
P1053
A-6467-2013
P106
P21
P31
P3829
P496
0000-0003-0467-4320