Boleslaw Goldman
Grey's Hospital(ZA)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Trypanosoma species research and implications, Mosquito-borne diseases and control
Most-Cited Works
- → Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT(1999)332 cited
- → Autosomal Recessive Catecholamine- or Exercise-Induced Polymorphic Ventricular Tachycardia(2001)268 cited
- A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.(2000)
- → Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin(2003)176 cited
- → Detection of chromosomal aberration in fetuses arising from recurrent spontaneous abortion by comparative genomic hybridization(1998)121 cited
- → A Missense Mutation in the LIM2 Gene Is Associated with Autosomal Recessive Presenile Cataract in an Inbred Iraqi Jewish Family(2002)112 cited
- → Tetrahydrocannabinol (THC) for cramps in amyotrophic lateral sclerosis: a randomised, double-blind crossover trial(2010)111 cited