R. Goliath

发表

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Andrew Menzies, Sarah Edkins, Sara Widaa, 2009, Nature Genetics.

Retinal degenerative disorders in Southern Africa: a molecular genetic approach.

R. Ramesar, R. Goliath, G. Rebello, 2003, Advances in experimental medicine and biology.

Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa

S. Bardien, R. Ramesar, R. Goliath, 1998, Human mutation.

Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder.

P. Beighton, D. Viljoen, G. Cortopassi, 1997, Journal of medical genetics.

Randomized controlled trial of trained patient-nominated treatment supporters providing partial directly observed antiretroviral therapy

A. Efron, R. Chaisson, J. Nachega, 2010, AIDS.

Patient-nominated, community-based HIV treatment supporters: patient perspectives, feasibility, challenges, and factors for success in HIV-infected South African adults.

A. Efron, R. Chaisson, J. Nachega, 2013, AIDS patient care and STDs.

Inherited retinal disorders in South Africa and the clinical impact of evolving technologies.

S. Bardien, R. Ramesar, R. Goliath, 2016, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Immunological characterisation of an unmasking TB-IRIS case.

R. Wilkinson, R. Goliath, G. Meintjes, 2012, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Duchenne muscular dystrophy: High-resolution melting curve analysis as an affordable diagnostic mutation scanning tool in a South African cohort.

R. Goliath, J. Wilmshurst, A. Esterhuizen, 2014, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Duchenne muscular dystrophy in the Western Cape, South Africa: Where do we come from and where are we going?

R. Goliath, J. Wilmshurst, A. Esterhuizen, 2016, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

AntiRetroviral Therapy In Second-line: investigating Tenofovir-lamivudine-dolutegravir (ARTIST): protocol for a randomised controlled trial

G. Maartens, Rulan Griesel, Olina Ngwenya, 2021, Wellcome open research.

Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p.

J. Weissenbach, P. Beighton, Y. Shugart, 1995, American journal of human genetics.

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.

P. Beighton, S. Bardien, C. Inglehearn, 1995, Human molecular genetics.

A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.

P. Beighton, R. Ramesar, R. Goliath, 1994, Human molecular genetics.

Plasma Pharmacokinetics of High-Dose Oral versus Intravenous Rifampicin in Patients with Tuberculous Meningitis: a Randomized Controlled Trial

G. Maartens, R. Wilkinson, R. Goliath, 2021, medRxiv.

A fundamental study of the PCR amplification of GC-rich DNA templates

A. Subramanian, Hendrik J. Viljoen, Elsje Pienaar, 2008, Comput. Biol. Chem..

Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.

S. Mundlos, P. Beighton, S. Bardien, 1996, Journal of Medical Genetics.

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

D. Mackey, F. Cremers, A. Bird, 2001, Human molecular genetics.

Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism?

R. Ramesar, R. Goliath, L. Ehrenreich, 2003, Clinical genetics.

The gene for PEDF, a retinal growth factor is a prime candidate for retinitis pigmentosa and is tightly linked to the RP13 locus on chromosome 17p13.3.

G. Chader, R. Ramesar, R. Goliath, 1996, Molecular vision.

A photoreceptor gene mutation in an indigenous black African family with retinitis pigmentosa identified using a rapid screening approach for common rhodopsin mutations.

R. Ramesar, R. Goliath, J. Greenberg, 1999, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.