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Oligonucleotide microarray based method for simultaneous diagnostic of 3-M syndrome, SOPH syndrome, tyrosinemia type 1, methaemoglobinaemia type 1, nonsyndromic hearing loss and
deafness
(DFNB1)
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Mutation analysis of the SLC26A4 gene in patients in Yakutia with inner ear abno...
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Reconstruction of the founder haplotype with mutation c.1621C>T (p.Gln541*) in t...
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Document Type
Article in Journal/Newspaper
3
Author
F. M. Teryutin
2
N. A. Barashkov
2
V. G. Pshennikova
2
В. Г. Пшенникова
2
Н. А. Барашков
2
Ф. М. Терютин
2
A. L. Danilova
1
A. L. Sukhomyamova
1
A. M. Cherdonova
1
A. V. Solovyev
1
E. K. Khusnutdinova
1
F. A. Platonov
1
G. P. Romanov
1
K. Yu. Nikolaeva
1
L. A. Klarov
1
L. S. Vychuzhina
1
L. U. Dzhemileva
1
M. I. Tomsky
1
M. T. Savvina
1
N. N. Gotovtsev
1
N. R. Maksimova
1
N. V. Luginov
1
O. L. Posukh
1
P. I. Golikova
1
P. M. Kotlyarov
1
S. A. Fedorova
1
T. E. Burtseva
1
А. В. Соловьев
1
А. Л. Данилова
1
А. Л. Сухомямова
1
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Topic
Yakuts
2
якуты
2
3-M syndrome
1
3-М синдром
1
CTRCT18
1
DFNB4
1
DNA-microarray
1
Eastern Siberia
1
FYCO1
1
Pendred syndrome
1
SLC26A4 gene
1
SOPH syndrome
1
SOPH-синдром
1
T (p.Gln541*)
1
Yakutia
1
c.1621C>
1
congenital autosomal recessive cataract
1
diagnostics
1
founder effect
1
heterozygous carriage
1
inherited diseases
1
inner ear abnormalities
1
methaemoglobinaemia type 1
1
nonsyndromic hearing loss and deafness (DFNB1) type 1A
1
point mutatios
1
population isolate
1
synthesized oligonucleotides
1
tyrosinemia type 1
1
Восточная Сибирь
1
Якутия
1
see all ...
Content Provider
Medical Genetics
Geographic location
Sakha
2
Language
Russian
3
Open Polar Keyword
Yakutia
3
Якути*
3
Yakuts
2
Якутия
2
Chukchi
1
Evenks
1
Republic of Sakha
1
Sakha
1
Sakha Republic
1
Siberia
1
Yakut
1
Саха
1
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