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Wormser, Ohad
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Online (43)
Mediatypes
Articles (Online) (23)
OpenAccess-fulltext (20)
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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
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/..
?
4
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/..
?
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
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/..
?
7
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/..
?
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
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/..
?
11
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/..
?
12
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/..
?
13
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/..
?
14
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/..
?
15
TMEM70 deficiency: Novel mutation and hypercitrullinemia du..:
Staretz‐Chacham, Orna
;
Wormser, Ohad
;
Manor, Esther
..
American Journal of Medical Genetics Part A. 179 (2019) 7 - p. 1293-1298 , 2019
Link:
https://doi.org/10.1002/..
1-15