Mia Horowitz

The human glucocerebrosidase gene and pseudogene: Structure and evolution

Mia Horowitz, Sylvia Wilder, Zeev Horowitz et al. · Genomics · 1989 · 430 citations

Biosynthesis, Cellular Enzymology, Medicine +7

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

Liat Samuelov, Ofer Sarig, Robert M. Harmon et al. · Nature Genetics · 2013 · 330 citations · Full text

Allergy, Autoimmune Disease, Atopic Dermatitis +9

ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity

Idit Ron, Mia Horowitz · Human Molecular Genetics · 2005 · 320 citations · Full text

Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype

Aya Abrahamov, Deborah Elstein, Ari Zimran et al. · The Lancet · 1995 · 211 citations

Genetics, Genetic Epidemiology, Unique Genotype +6

A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma

Eli Sprecher, Akemi Ishida‐Yamamoto, Mordechai Mizrahi-Koren et al. · The American Journal of Human Genetics · 2005 · 197 citations · Full text

Snare Protein Involved, Neuromuscular Junction, Cerebral Dysgenesis +12