Search details
1.
ABL1-related congenital heart defects and skeletal malformations syndrome in a patient from Sub-Saharan Africa: A case report highlighting novel cardiac features.
Am J Med Genet A
; 191(6): 1652-1655, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36949638
2.
Rubinstein-Taybi Syndrome: Presentation in the First Month of Life.
J Pediatr
; 249: 106-110, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35803299
3.
Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16-year experience from a public hospital in South Africa.
Prenat Diagn
; 42(13): 1643-1649, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36403096
4.
A qualitative study exploring caregivers' experiences, perspectives, and expectations for precision medicine in epilepsy in South Africa.
Epilepsy Behav
; 117: 107873, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33711685
5.
Turner syndrome in diverse populations.
Am J Med Genet A
; 182(2): 303-313, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31854143
6.
Cornelia de Lange syndrome in diverse populations.
Am J Med Genet A
; 179(2): 150-158, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30614194
7.
Williams-Beuren syndrome in diverse populations.
Am J Med Genet A
; 176(5): 1128-1136, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29681090
8.
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.
J Med Genet
; 53(11): 776-785, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27334370
9.
Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.
J Genet Couns
; 23(2): 147-55, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24122200
10.
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
Nat Genet
; 37(3): 221-3, 2005 Mar.
Article
in English
| MEDLINE | ID: mdl-15696165
11.
The decision-making process of pregnant individuals offered termination of pregnancy for serious congenital abnormalities.
Patient Educ Couns
; 112: 107745, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37071936
12.
Cohort profile: the Western Cape Pregnancy Exposure Registry (WCPER).
BMJ Open
; 12(6): e060205, 2022 06 29.
Article
in English
| MEDLINE | ID: mdl-35768089
13.
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Hum Mutat
; 32(6): 610-9, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21344540
14.
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
J Med Genet
; 47(7): 453-63, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20472660
15.
Demonstrating the feasibility of digital health to support pediatric patients in South Africa.
Epilepsia Open
; 6(4): 653-662, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34310860
16.
Beyond the Caster Semenya controversy: the case of the use of genetics for gender testing in sport.
J Genet Couns
; 19(6): 545-8, 2010 Dec.
Article
in English
| MEDLINE | ID: mdl-20824315
17.
Renal disease in Cockayne syndrome.
Eur J Med Genet
; 63(1): 103612, 2020 Jan.
Article
in English
| MEDLINE | ID: mdl-30630117
18.
Birth outcomes following antiretroviral exposure during pregnancy: Initial results from a pregnancy exposure registry in South Africa.
South Afr J HIV Med
; 20(1): 971, 2019.
Article
in English
| MEDLINE | ID: mdl-31616571
19.
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Front Genet
; 10: 611, 2019.
Article
in English
| MEDLINE | ID: mdl-31417602
20.
The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa.
Semin Pediatr Neurol
; 26: 10-14, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29961494