Boleslaw Goldman

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

Lídia Feliubadaló, Mariona Font, Jesús Purroy et al. · Nature Genetics · 1999 · 329 citations

Genetics, Biochemical Genetics, Molecular Biology +5

Autosomal Recessive Catecholamine- or Exercise-Induced Polymorphic Ventricular Tachycardia

Hadas Lahat, Michael Eldar, Etgar Levy‐Nissenbaum et al. · Circulation · 2001 · 268 citations · Full text

A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.

Elon Pras, Moshe Frydman, Etgar Levy‐Nissenbaum et al. · PubMed · 2000 · 191 citations

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

Etgar Levy‐Nissenbaum, Regina C. Betz, Moshe Frydman et al. · Nature Genetics · 2003 · 174 citations

Hypotrichosis Simplex, Genetics, Pathology +5

Detection of chromosomal aberration in fetuses arising from recurrent spontaneous abortion by comparative genomic hybridization

Michal Daniely, Ayala Aviram‐Goldring, Gad Barkai et al. · Human Reproduction · 1998 · 121 citations · Full text

Fertility, Cytogenetics, Genetics +18