Publications by authors named "Ruth Bargal"

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Mutations in do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease.
Roi Bar, Efrat Ben-Shalom, Mordechai Duvdevani, Ruth Belostotsky, Martin R Pollak

J Urol· May 2021

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Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria.
Yaacov Frishberg, Avraham Zeharia, Roman Lyakhovetsky, Ruth Bargal, Ruth Belostotsky

J Med Genet· August 2014

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A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity.
Marsha Zeigler, Vardiella Meiner, J P Newman, Bettina Steiner-Birmanns, Ruth Bargal

J Neurol Sci· April 2014

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Genetic screening for Krabbe disease: learning from the past and looking to the future.
Michal Macarov, Joel Zlotogora, Vardiella Meiner, Zinab Khatib, Vivi Sury, Ruth Bargal

Am J Med Genet A· March 2011

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The clinical spectrum of fetal Niemann-Pick type C.
Ronen Spiegel, Annick Raas-Rothschild, Orit Reish, Miriam Regev, Vardiella Meiner, Ruth Bargal

Am J Med Genet A· March 2009

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Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.
Ruth Bargal, Valerie Cormier-Daire, Ziva Ben-Neriah, Martine Le Merrer, Jacob Sosna

Am J Hum Genet· January 2009

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P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes.
Nir Hirshoren, Menachem Gross, Eyal Banin, Jacob Sosna, Ruth Bargal

Eur J Med Genet· October 2008

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Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.
Vered Molho-Pessach, Ruth Bargal, Yigal Abramowitz, Victoria Doviner, Arieh Ingber

J Am Acad Dermatol· September 2007

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When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
Ruth Bargal, Marsha Zeigler, Bassam Abu-Libdeh, Vivi Zuri, Hanna Mandel

Mol Genet Metab· August 2006

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The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations.
Gideon Bach, Michael B T Webb, Ruth Bargal, Marcia Zeigler, Joseph Ekstein

Hum Mutat· December 2005

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Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.
Stephan Tiede, Stephan Storch, Torben Lübke, Bernard Henrissat, Ruth Bargal

Nat Med· October 2005

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