Concepedia

Ruth Bargal

RB

Statistics

Publications

26

Citations

1.6K

H-Index

20

Active since

1979

Affiliations

Hebrew University of Jerusalem(Current)

Hadassah Medical Center

Hadassah Academic College

Shaare Zedek Medical Center

Technion – Israel Institute of Technology

Ruth Bargal is an author at Hebrew University of Jerusalem specializing in life sciences, genetics, and genetic disorders.

Publications per year

1979–2014

26

Publications

26

Identification of the gene causing mucolipidosis type IV

Ruth Bargal, Nili Avidan, Edna Ben‐Asher et al. · Nature Genetics · 2000 · 399 citations

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Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase

Stephan Tiede, Stephan Storch, Torben Lübke et al. · Nature Medicine · 2005 · 210 citations · Full text

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Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications

Ruth Bargal, Valérie Cormier‐Daire, Ziva Ben‐Neriah et al. · The American Journal of Human Genetics · 2008 · 109 citations · Full text

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The clinical spectrum of fetal Niemann–Pick type C

Ronen Spiegel, Annick Raas‐Rothschild, Orit Reish et al. · American Journal of Medical Genetics Part A · 2009 · 96 citations

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Mucolipidosis type IV: NovelMCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population

Ruth Bargal, Nili Avidan, Tzvia Olender et al. · Human Mutation · 2001 · 87 citations

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1–5 of 26