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Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair FolliclesHuman hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPHGenetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies.Clinical and morphological manifestations of aniridia-associated keratopathy on anterior segment optical coherence tomography and in vivo confocal microscopy.Clouston syndrome: first case in Russia.[MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic].Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.[Diagnostic capabilities of optical coherence tomography and confocal laser scanning microscopy in studying manifestations of aniridia-associated keratopathy].A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.Total hypotrichosis: genetic form of alopecia not linked to hairless geneMolecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-CherkessiaAnalysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Rena Zinchenko
@ast
Rena Zinchenko
@en
Rena Zinchenko
@es
Rena Zinchenko
@nl
Rena Zinchenko
@sl
type
label
Rena Zinchenko
@ast
Rena Zinchenko
@en
Rena Zinchenko
@es
Rena Zinchenko
@nl
Rena Zinchenko
@sl
prefLabel
Rena Zinchenko
@ast
Rena Zinchenko
@en
Rena Zinchenko
@es
Rena Zinchenko
@nl
Rena Zinchenko
@sl
P106
P1153
6603422100
P21
P31
P496
0000-0003-3586-3458