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Scientific Reports
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May 25, 2016
Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies
T V Andreeva, T V Tyazhelova, V N Rykalina, et al.
BMC Medical Genetics
|
March 23, 2019
Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus
N V Petrova, N Y Kashirskaya, D K Saydaeva, et al.
Genetika
|
December 23, 2004
[The structure and diversiity of hereditary pathology in Sakha Republic (Yakutia)]
L A Tarskaia, R A Zinchenko, G I El'chinova, et al.
BMC Medical Genomics
|
September 19, 2020
A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region
Tatyana A Vasilyeva, Andrey V Marakhonov, Marina E Minzhenkova, et al.
Biomeditsinskaia Khimiia
|
September 25, 2014
[Protective properties of recombinant IgA1 protease from meningococcus]
O V Kotel'nikova, A P Alliluev, E Iu Drozhzhina, et al.
International Journal of Molecular Epidemiology and Genetics
|
September 25, 2018
Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic
Rena A Zinchenko, Vitaly V Kadyshev, Galina I El'chinova, et al.
International Journal of Molecular Sciences
|
January 18, 2020
Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic
Rena A Zinchenko, Amin Kh Makaov, Andrey V Marakhonov, et al.
Genetika
|
February 18, 2004
[Burden of hereditary diseases in residents of the Sakh republic (Iakutiia)]
L A Tarskaia, R A Zinchenko, G I El'chiniova, et al.
Pediatric Neurology
|
May 23, 2024
Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns
Irina Yu Efimova, Rena A Zinchenko, Andrey V Marakhonov, et al.
Journal of Clinical Immunology
|
April 5, 2024
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns
Andrey V Marakhonov, Irina Yu Efimova, Anna A Mukhina, et al.
Page
of 20
Search research articles
Search
Showing results (181-190 of 192) with videos related to
Sort By:
Page
of 20
Scientific Reports
|
May 25, 2016
Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies
T V Andreeva, T V Tyazhelova, V N Rykalina, et al.
BMC Medical Genetics
|
March 23, 2019
Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus
N V Petrova, N Y Kashirskaya, D K Saydaeva, et al.
Genetika
|
December 23, 2004
[The structure and diversiity of hereditary pathology in Sakha Republic (Yakutia)]
L A Tarskaia, R A Zinchenko, G I El'chinova, et al.
BMC Medical Genomics
|
September 19, 2020
A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region
Tatyana A Vasilyeva, Andrey V Marakhonov, Marina E Minzhenkova, et al.
Biomeditsinskaia Khimiia
|
September 25, 2014
[Protective properties of recombinant IgA1 protease from meningococcus]
O V Kotel'nikova, A P Alliluev, E Iu Drozhzhina, et al.
International Journal of Molecular Epidemiology and Genetics
|
September 25, 2018
Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic
Rena A Zinchenko, Vitaly V Kadyshev, Galina I El'chinova, et al.
International Journal of Molecular Sciences
|
January 18, 2020
Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic
Rena A Zinchenko, Amin Kh Makaov, Andrey V Marakhonov, et al.
Genetika
|
February 18, 2004
[Burden of hereditary diseases in residents of the Sakh republic (Iakutiia)]
L A Tarskaia, R A Zinchenko, G I El'chiniova, et al.
Pediatric Neurology
|
May 23, 2024
Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns
Irina Yu Efimova, Rena A Zinchenko, Andrey V Marakhonov, et al.
Journal of Clinical Immunology
|
April 5, 2024
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns
Andrey V Marakhonov, Irina Yu Efimova, Anna A Mukhina, et al.
Page
of 20