E-LIB Suche - Ergebnisse für: Anikster, Yair

1

PREVALENCE OF  VARIANTS AND GENOTYPES IN PATIENTS WITH L-AR..:

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Bisello, Giovanni...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107421 , 2023

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

2

Corrigendum to: Prevalence of DDC genotypes in patients wit..:

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Alfadhel, Majid...
Molecular Genetics and Metabolism. 139 (2023) 4 - p. 107647 , 2023

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

3

Hereditary orotic aciduria identified by newborn screening:

Staretz-Chacham, Orna ; Damseh, Nadirah S. ; Daas, Suha...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

4

Prevalence of DDC genotypes in patients with aromatic L-ami..:

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Alfadhel, Majid...
Molecular Genetics and Metabolism. 139 (2023) 3 - p. 107624 , 2023

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

5

Clinical impact of exome sequencing in the setting of a gen..:

Kagan, Maayan ; Semo-Oz, Rotem ; Ben Moshe, Yishay...
Frontiers in Genetics. 13 (2023) - p. , 2023

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

6

Pathological variants in TOP3A cause distinct disorders of ..:

Erdinc, Direnis ; Rodríguez‐Luis, Alejandro ; Fassad, Mahmoud R...
EMBO Molecular Medicine. 15 (2023) 5 - p. , 2023

Link: https://doi.org/10.15252..

7

Oculocutaneous albinism and bleeding diathesis due to a nov..:

Marek-Yagel, Dina ; Abudi-Sinreich, Shachar ; Macarov, Michal...
Frontiers in Genetics. 13 (2022) - p. , 2022

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

8

Nonsense mutation in the novel PERCC1 gene as a genetic cau..:

Marek-Yagel, Dina ; Stenke, Emily ; Pode-Shakked, Ben...
Human Genetics. 142 (2022) 5 - p. 691-696 , 2022

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

9

Generation of two human iPSC lines, HMGUi003-A and MRIi028-..:

Iuso, Arcangela ; Zhang, Fangfang ; Rusha, Ejona...
Stem Cell Research. 61 (2022) - p. 102773 , 2022

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

10

Biallelic DAW1 variants cause a motile ciliopathy character..:

Leslie, Joseph S. ; Hjeij, Rim ; Vivante, Asaf...
Genetics in Medicine. 24 (2022) 11 - p. 2249-2261 , 2022

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

11

Progressive pulmonary fibrosis in a murine model of Hermans..:

Abudi-Sinreich, Shachar ; Bodine, Steven P. ; Yokoyama, Tadafumi...
Respiratory Research. 23 (2022) 1 - p. , 2022

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

12

Addition of galactose‐1‐phosphate measurement enhances newb..:

Daas, Suha ; Abu Salah, Nasser ; Anikster, Yair...
Journal of Inherited Metabolic Disease. 46 (2022) 2 - p. 232-242 , 2022

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

13

Glycogen Storage Disease type IA refractory to cornstarch: ..:

Steg Saban, Or ; Pode-Shakked, Ben ; Abu-Libdeh, Bassam...
European Journal of Medical Genetics. 65 (2022) 6 - p. 104518 , 2022

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

14

The effects of the COVID-19 pandemic on patients with lysos..:

Kristal, Eyal ; Pode-Shakked, Ben ; Hazan, Guy...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

15

Dietary-Induced Ketogenesis: Adults Are Not Children:

Porper, Keren ; Zach, Leor ; Shpatz, Yael...
Nutrients. 13 (2021) 9 - p. 3093 , 2021

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