E-LIB Suche - Ergebnisse für: Wormser, Ohad

1

VARista: a free web platform for streamlined whole-genome v..:

Hadar, Noam ; Dolgin, Vadim ; Oustinov, Katya...
Human Genetics. 143 (2024) 5 - p. 695-701 , 2024

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

2

A role of BPTF in viral oncogenicity delineated through stu..:

Yogev, Yuval ; Schaffer, Moshe ; Shlapobersky, Mark...
Journal of Medical Virology. 96 (2024) 2 - p. , 2024

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

3

Limb girdle muscular disease caused byHMGCRmutation and sta..:

Yogev, Yuval ; Shorer, Zamir ; Koifman, Arie...
Proceedings of the National Academy of Sciences. 120 (2023) 7 - p. , 2023

Link: https://doi.org/10.1073/..

4

IHH enhancer variant within neighboring NHEJ1 intron causes..:

Wormser, Ohad ; Perez, Yonatan ; Dolgin, Vadim...
npj Genomic Medicine. 8 (2023) 1 - p. , 2023

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

5

A syndrome of severe intellectual disability, hypotonia, fa..:

Halperin, Daniel ; Agam, Nadav ; Hallak, Maher...
Clinical Genetics. 102 (2022) 2 - p. 123-129 , 2022

Link: https://doi.org/10.1111/..

6

PSMC1 variant causes a novel neurological syndrome:

Aharoni, Sarit ; Proskorovski‐Ohayon, Regina ; Krishnan, Ramesh Kumar...
Clinical Genetics. 102 (2022) 4 - p. 324-332 , 2022

Link: https://doi.org/10.1111/..

7

Transcript-Based Diagnosis and Expanded Phenotype of an Int..:

Yogev, Yuval ; Bistritzer, Jacob ; Sadaka, Yair...
Molecular Diagnosis & Therapy. 26 (2022) 5 - p. 561-568 , 2022

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

8

Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Pr..:

Staretz-Chacham, Orna ; Amar, Shirly ; Almashanu, Shlomo...
Genes. 12 (2021) 8 - p. 1140 , 2021

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

9

The Effects of a Ketogenic Diet on Patients with Dihydrolip..:

Staretz-Chacham, Orna ; Pode-Shakked, Ben ; Kristal, Eyal...
Nutrients. 13 (2021) 10 - p. 3523 , 2021

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

10

Phenotypic variability and mutation hotspot in COX15‐relate..:

Halperin, Daniel ; Drabkin, Max ; Wormser, Ohad...
American Journal of Medical Genetics Part A. 182 (2020) 6 - p. 1506-1512 , 2020

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

11

Defining the biological responses of IL-6 by the study of a..:

Nahum, Amit ; Sharfe, Nigel ; Broides, Arnon...
Journal of Allergy and Clinical Immunology. 145 (2020) 3 - p. 1011-1015.e6 , 2020

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

12

A homozygous missense variant of SUMF1 in the Bedouin popul..:

Staretz‐Chacham, Orna ; Schlotawa, Lars ; Wormser, Ohad...
Molecular Genetics & Genomic Medicine. 8 (2020) 9 - p. , 2020

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

13

B4GALT1‐congenital disorders of glycosylation: Expansion of..:

Staretz‐Chacham, Orna ; Noyman, Iris ; Wormser, Ohad...
Clinical Genetics. 97 (2020) 6 - p. 920-926 , 2020

Link: https://doi.org/10.1111/..

14

Novel MTMR2 mutation causing severe Charcot-Marie-Tooth typ..:

Halperin, Daniel ; Sapir, Aviad ; Wormser, Ohad...
neurogenetics. 21 (2020) 4 - p. 301-304 , 2020

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

15

Mutations in the microtubule-associated protein MAP11 (C7or..:

Perez, Yonatan ; Bar-Yaacov, Reut ; Kadir, Rotem...
Brain. 142 (2019) 3 - p. 574-585 , 2019

Link: https://doi.org/10.1093/..