Hannah Mandel

SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

Hannah Mandel, Revital Shemer, Zvi Borochowitz et al. · The American Journal of Human Genetics · 2008 · 277 citations · Full text

Developmental Anomaly, Clinical Disorders, Loss-of-function Mutation +9

Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function

Stephanie K. Dougan, Duarte C. Barral, Yvonne Junker et al. · Journal of Clinical Investigation · 2010 · 77 citations · Full text

Metabolic Disorder, Immune Regulation, Immunology +26

Defective Lamellar Granule Secretion in Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome Caused by a Mutation in VPS33B

Dov Hershkovitz, Hannah Mandel, Akemi Ishida‐Yamamoto et al. · Archives of Dermatology · 2008 · 51 citations

Glycogen storage disease type 1a in Israel: Biochemical, clinical, and mutational studies

Ruti Parvari, Ke-Jian Lei, Nava Bashan et al. · American Journal of Medical Genetics · 1997 · 39 citations · Full text

Cell and tissue heterogeneity in peroxisomal patients

Frank Roels, Marc Espeel, Hannah Mandel et al. · Ghent University Academic Bibliography (Ghent University) · 1995 · 12 citations

Tissue Heterogeneity, Physiology, Histopathology +3