Ayala Frumkin

机构：Hebrew University of Jerusalem, Hadassah Medical Center · ORCID：0000-0001-9103-9717

发表论文 62 篇 · 总被引 2867 次 · h-index 24

代表论文

• Ethanol exposure affects gene expression in the embryonic organizer and reduces retinoic acid levels (2005 · Developmental Biology · 被引 126)
• Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia (2015 · Journal of Assisted Reproduction and Genetics · 被引 123)
• Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate (2002 · Prenatal Diagnosis · 被引 96)
• TRPML and lysosomal function (2007 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 被引 95)
• Mucolipidosis type IV: NovelMCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population (2001 · Human Mutation · 被引 88)
• A human laterality disorder associated with a homozygous WDR16 deletion (2014 · European Journal of Human Genetics · 被引 76)