E-LIB Suche - Ergebnisse für: Demina, Nina

1

Spectrum of Mutations in PTPN11 in Russian Cohort:

Orlova, Anna ; Guseva, Daria ; Demina, Nina..
Genes. 15 (2024) 3 - p. 345 , 2024

Link: https://doi.org/10.3390/..

2

Genetic spectrum of sarcoglycanopathies in a cohort of Russ..:

Bulakh, Maria ; Polyakova, Daria ; Dadali, Elena...
Gene. 927 (2024) - p. 148680 , 2024

Link: https://doi.org/10.1016/..

3

Clinical Characterization of Alagille Syndrome in Patients ..:

Semenova, Natalia ; Kamenets, Elena ; Annenkova, Eleonora...
International Journal of Molecular Sciences. 24 (2023) 14 - p. 11758 , 2023

Link: https://doi.org/10.3390/..

4

GABRA1‐Related Disorders: From Genetic to Functional Pathwa..:

Musto, Elisa ; Liao, Vivian W. Y. ; Johannesen, Katrine M....
Annals of Neurology. 95 (2023) 1 - p. 27-41 , 2023

Link: https://doi.org/10.1002/..

5

The First Russian Patient with Native American Myopathy:

Murtazina, Aysylu ; Demina, Nina ; Chausova, Polina...
Genes. 13 (2022) 2 - p. 341 , 2022

Link: https://doi.org/10.3390/..

6

Сlinical and genetic characteristics of skeletal cyliopathi..:

Markova, Tatiana V. ; Kenis, Vladimir M. ; Melchenko, Evgeniy V....
Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. 10 (2022) 1 - p. 43-56 , 2022

Link: https://doi.org/10.17816..

7

mRNA analysis revealed a novel pathogenic EIF2S3 variant ca..:

Ivanova, Nadezda ; Serzhanova, Victoria ; Demina, Nina..
European Journal of Medical Genetics. 65 (2022) 2 - p. 104421 , 2022

Link: https://doi.org/10.1016/..

8

Complex Diagnostics of Non-Specific Intellectual Developmen..:

Levchenko, Olga ; Dadali, Elena ; Bessonova, Ludmila...
International Journal of Molecular Sciences. 23 (2022) 14 - p. 7764 , 2022

Link: https://doi.org/10.3390/..

9

Case report: Unusual episodic myopathy in a patient with no..:

Sharova, Margarita ; Skoblov, Mikhail ; Dadali, Elena...
Frontiers in Neurology. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

10

Clinical and genetic characteristics and orthopedic manifes..:

Markova, Tatyana V. ; Kenis, Vladimir M. ; Melchenko, Evgenii V....
Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. 8 (2021) 4 - p. 451-460 , 2021

Link: https://doi.org/10.17816..

11

A Two-Year Clinical Description of a Patient with a Rare Ty..:

Shatokhina, Olga ; Semenova, Natalia ; Demina, Nina...
Genes. 12 (2021) 10 - p. 1618 , 2021

Link: https://doi.org/10.3390/..

12

Biallelic variants in TMEM222 cause a new autosomal recessi..:

Polla, Daniel L. ; Farazi Fard, Mohammad Ali ; Tabatabaei, Zahra...
Genetics in Medicine. 23 (2021) 7 - p. 1246-1254 , 2021

Link: https://doi.org/10.1038/..

13

Retrospective analysis of 17 patients with mitochondrial me..:

Sparber, Peter ; Krylova, Tatiana ; Repina, Svetlana...
Parkinsonism & Related Disorders. 84 (2021) - p. 98-104 , 2021

Link: https://doi.org/10.1016/..

14

Case Report: Complicated Molecular Diagnosis of MECP2 Gene ..:

Beskorovainaya, Tatiana ; Konovalov, Fedor ; Demina, Nina...
Journal of Autism and Developmental Disorders. 51 (2020) 6 - p. 2159-2163 , 2020

Link: https://doi.org/10.1007/..

15

Innovative Development of Modern Organizations, New Economy..:

, In: Ecological Footprint of the Modern Economy and the Ways to Reduce It; Advances in Science, Technology & Innovation,

Salogub, Anzhela M. ; Chistova, Marina V. ; Demina, Nina V.. - p. 59-64 , 2024

Link: https://doi.org/10.1007/..