about
Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletionsMolecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.Hidden X chromosomal mosaicism in a 46,XX male[Diagnostics of keratitis-ichthyosis-deafness syndrome (KID- syndrome)][Hearing loss due to mutations or lack of the gene coding protein stereocillin][OTOF-related auditory neuropathy spectrum disorder]
P50
Q34326178-2FC07D9C-DF16-44C1-8145-ACC837F420BFQ41614609-BCFEE1EA-97D1-4A55-AA16-1003ABACB89FQ64928668-AF14F46A-D0DD-49C4-84D9-6E051ADF6AF9Q84559258-5E722795-C466-44B5-8080-CFBFEAF8701EQ95407190-9E8BC5A4-BF75-42AC-8C8A-672ACED85FD6Q96020758-A8C9A161-B4EB-4DA7-9E6F-6C19D59B5348Q96020763-74D4FA6F-199A-4FB9-83DF-75F41CA86CA7
P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Elena A Bliznetz
@en
Elena A Bliznetz
@nl
type
label
Elena A Bliznetz
@en
Elena A Bliznetz
@nl
prefLabel
Elena A Bliznetz
@en
Elena A Bliznetz
@nl
P31
P496
0000-0002-5339-5566