E-LIB Suche - Ergebnisse für: Drabkin, Max

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

Hyperinsulinism/hyperammonemia syndrome caused by biallelic..:

Safran, Amit ; Proskorovski‐Ohayon, Regina ; Eskin‐Schwartz, Marina...
Journal of Inherited Metabolic Disease. 46 (2023) 4 - p. 744-755 , 2023

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

5

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/..

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

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/..

8

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/..

9

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/..

10

SCAPER localizes to primary cilia and its mutation affects ..:

Wormser, Ohad ; Gradstein, Libe ; Yogev, Yuval...
European Journal of Human Genetics. 27 (2019) 6 - p. 928-940 , 2019

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

11

A novel SLC12A1 mutation in Bedouin kindred with antenatal ..:

Halperin, Daniel ; Dolgin, Vadim ; Geylis, Michael...
Annals of Human Genetics. 83 (2019) 5 - p. 361-366 , 2019

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

12

Combined CNV, haplotyping and whole exome sequencing enable..:

Wormser, Ohad ; Gradstein, Libe ; Kadar, Einat...
American Journal of Medical Genetics Part A. 176 (2018) 12 - p. 2695-2703 , 2018

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

13

Heterozygous versus homozygous phenotype caused by the same..:

Drabkin, Max ; Birk, Ohad S. ; Birk, Ruth
BMC Medical Genetics. 19 (2018) 1 - p. , 2018

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

14

Progressive hereditary spastic paraplegia caused by a homoz..:

Yogev, Yuval ; Perez, Yonatan ; Noyman, Iris...
European Journal of Human Genetics. 25 (2017) 8 - p. 966-972 , 2017

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

15

Limb girdle muscular disease caused by HMGCR mutation and s..:

Yogev, Yuval ; Shorer, Zamir ; Koifman, Arie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9963716/. , 2023

Link: http://www.ncbi.nlm.nih...