Ruth Shomrat

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

Mia Horowitz, Metsada Pasmanik‐Chor, Zvi Borochowitz et al. · Human Mutation · 1998 · 101 citations

Rett Syndrome: Clinical Manifestations in Males With MECP2 Mutations

Bruria Ben Zeev, Yuval Yaron, N. Carolyn Schanen et al. · Journal of Child Neurology · 2002 · 87 citations

Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancer

Paul Rozen, Ruth Shomrat, Hana Strul et al. · Gastroenterology · 1999 · 80 citations

Cancer Risk, Cancer Epidemiology, Medicine +13

Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to <i>NR0B1</i> gene mutations

Zohar Landau, Aaron Hanukoglu, Joseph Sack et al. · Clinical Endocrinology · 2009 · 70 citations

Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9

Paul Rozen, Ziona Samuel, Ruth Shomrat et al. · Gut · 1999 · 60 citations · Full text