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Shubina, Jekaterina
18  Ergebnisse:
Personensuche X
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1

Expanding phenotype of MED13-associated syndrome presenting..:

Tolmacheva, Ekaterina ; Bolshakova, Anna S. ; Shubina, Jekaterina...
BMC Medical Genomics.  17 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

WES-BASED SCREENING OF 7,000 NEWBORNS: A PILOT STUDY IN RUS..:

Shubina, Jekaterina ; Tolmacheva, Ekaterina ; Maslennikov, Dmitry...
Human Genetics and Genomics Advances.  , 2024
Link: https://doi.org/10.1016/..
 
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3

De novo start‐loss variant in HIRA in patient with DiGeorge..:

Maslennikov, Dmitry ; Tolmacheva, Ekaterina ; Shubina, Jekaterina...
Clinical Genetics.  105 (2024)  6 - p. 683-685 , 2024
Link: https://doi.org/10.1111/..
 
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4

CAMK2D De Novo Missense Variant in Patient with Syndromic N..:

Tolmacheva, Ekaterina R. ; Shubina, Jekaterina ; Kochetkova, Taisiya O....
Genes.  14 (2023)  6 - p. 1177 , 2023
Link: https://doi.org/10.3390/..
 
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5

De Novo Variant in the KCNJ9 Gene as a Possible Cause of Ne..:

Kochetkova, Taisiya O. ; Maslennikov, Dmitry N. ; Tolmacheva, Ekaterina R....
Genes.  14 (2023)  2 - p. 366 , 2023
Link: https://doi.org/10.3390/..
 
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6

Familial Predisposition to Leiomyomata: Searching for Prote..:

Kuznetsova, Maria V. ; Sogoyan, Nelly S. ; Donnikov, Andrew J....
Biomedicines.  10 (2022)  2 - p. 508 , 2022
Link: https://doi.org/10.3390/..
 
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7

Prenatal diagnosis of Prader‐Willi syndrome due to uniparen..:

Shubina, Jekaterina ; Barkov, Ilya Y. ; Stupko, Olga K....
Molecular Genetics & Genomic Medicine.  8 (2020)  10 - p. , 2020
Link: https://doi.org/10.1002/..
 
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8

In silico size selection is effective in reducing false pos..:

Shubina, Jekaterina ; Trofimov, Dmitry Yu ; Barkov, Ilya Yu...
Prenatal Diagnosis.  37 (2017)  13 - p. 1305-1310 , 2017
Link: https://doi.org/10.1002/..
 
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9

CAMK2D De Novo Missense Variant in Patient with Syndromic N..:

Tolmacheva, Ekaterina R ; Shubina, Jekaterina ; Kochetkova, Taisiya O...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298453/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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10

Familial Predisposition to Leiomyomata: Searching for Prote..:

Kuznetsova, Maria V ; Sogoyan, Nelly S ; Donnikov, Andrew J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962434/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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11

Prenatal diagnosis of Prader‐Willi syndrome due to uniparen..:

Shubina, Jekaterina ; Barkov, Ilya Y ; Stupko, Olga K...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549559/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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12

CAMK2D De Novo Missense Variant in Patient with Syndromic N..:

Ekaterina R. Tolmacheva ; Jekaterina Shubina ; Taisiya O. Kochetkova...
Human Genomics and Genetic Diseases.  , 2023
Link: https://doi.org/10.3390/..
 
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13

CAMK2D De Novo Missense Variant in Patient with Syndromic N..:

Ekaterina R. Tolmacheva ; Jekaterina Shubina ; Taisiya O. Kochetkova...
https://www.mdpi.com/2073-4425/14/6/1177.  , 2023
Link: https://doi.org/10.3390/..
 
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14

De Novo Variant in the KCNJ9 Gene as a Possible Cause of Ne..:

Taisiya O. Kochetkova ; Dmitry N. Maslennikov ; Ekaterina R. Tolmacheva...
Human Genomics and Genetic Diseases.  , 2023
Link: https://doi.org/10.3390/..
 
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15

De Novo Variant in the KCNJ9 Gene as a Possible Cause of Ne..:

Taisiya O. Kochetkova ; Dmitry N. Maslennikov ; Ekaterina R. Tolmacheva...
https://www.mdpi.com/2073-4425/14/2/366.  , 2023
Link: https://doi.org/10.3390/..
 
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