E-LIB Suche - Ergebnisse für: Zakharova, Ekaterina Y.

1

Identification of a Novel Indel Variant in the DARS2 Gene i..:

Bostanova, Fatima M. ; Tsygankova, Polina G. ; Larshina, Elena A....
Genes. 15 (2024) 5 - p. 615 , 2024

2

Pediatric Patients with Sitosterolemia: Next-Generation Seq..:

Miroshnikova, Valentina V. ; Vasiluev, Petr A. ; Linkova, Svetlana V....
Journal of Personalized Medicine. 13 (2023) 10 - p. 1492 , 2023

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

3

Biochemical Characteristics of iPSC-Derived Dopaminergic Ne..:

Grigor'eva, Elena V. ; Kopytova, Alena E. ; Yarkova, Elena S....
International Journal of Molecular Sciences. 24 (2023) 5 - p. 4437 , 2023

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

4

Potential Binding Sites of Pharmacological Chaperone NCGC00..:

Kopytova, Alena E. ; Rychkov, George N. ; Cheblokov, Alexander A....
International Journal of Molecular Sciences. 24 (2023) 10 - p. 9105 , 2023

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

5

New Acylcarnitine Ratio as a Reliable Indicator of Long-Cha..:

Baydakova, Galina V. ; Tsygankova, Polina G. ; Pechatnikova, Natalia L....
International Journal of Neonatal Screening. 9 (2023) 3 - p. 48 , 2023

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

6

Clinical and Genetic Characteristics of Pediatric Patients ..:

Glotov, Oleg S. ; Savostyanov, Kirill V. ; Nagornova, Tatyana S....
International Journal of Molecular Sciences. 23 (2022) 21 - p. 12976 , 2022

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

7

A Clinical Case of a Homozygous Deletion in the APOA5 Gene ..:

Vasiluev, Petr Andreevich ; Ivanova, Olga N. ; Semenova, Natalia A....
Genes. 13 (2022) 6 - p. 1062 , 2022

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

8

Could Blood Hexosylsphingosine Be a Marker for Parkinson's ..:

Kopytova, Alena E. ; Usenko, Tatiana S. ; Baydakova, Galina V....
Movement Disorders. 37 (2022) 8 - p. 1779-1781 , 2022

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

9

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..

10

Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Pat..:

Lipiński, Patryk ; Szczałuba, Krzysztof ; Buda, Piotr...
International Journal of Molecular Sciences. 23 (2022) 19 - p. 11424 , 2022

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

11

Overlapping Phenotype of Adult-Onset ALPK3-Cardiomyopathy i..:

Chumakova, Olga S. ; Milovanova, Natalia V. ; Bychkov, Igor O....
Cardiology Research. 13 (2022) 6 - p. 398-404 , 2022

Link: https://doi.org/10.14740..

12

BH4-deficient hyperphenylalaninemia in Russia:

Gundorova, Polina ; Kuznetcova, Irina A. ; Baydakova, Galina V....
PLOS ONE. 16 (2021) 4 - p. e0249608 , 2021

Link: https://doi.org/10.1371/..

13

Molecular and biochemical study of glutaric aciduria type 1..:

Kurkina, Marina V. ; Mihaylova, Svetlana V. ; Baydakova, Galina V....
Metabolic Brain Disease. 35 (2020) 6 - p. 1009-1016 , 2020

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

14

Hepatic glycogen synthase (GYS2) deficiency: seven novel pa..:

Kamenets, Elena A. ; Gusarova, Elena A. ; Milovanova, Natalia V....
JIMD Reports. 53 (2020) 1 - p. 39-44 , 2020

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

15

Oxysterol/chitotriosidase based selective screening for Nie..:

Degtyareva, Anna V. ; Proshlyakova, Tatiana Y. ; Gautier, Marina S....
BMC Medical Genetics. 20 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..