OpenURL Connection Search

Select item for more details and to access through your institution.

Junctophilin 3 ( JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2015, v. 168B, n. 7, p. 573, doi. 10.1002/ajmg.b.32332
By:
- Krause, Amanda;
- Mitchell, Claire;
- Essop, Fahmida;
- Tager, Susan;
- Temlett, James;
- Stevanin, Giovanni;
- Ross, Christopher;
- Rudnicki, Dobrila;
- Margolis, Russell
Publication type:
Article
Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation.
Published in:
Human Genetics, 2000, v. 106, n. 1, p. 36, doi. 10.1007/s004390051006
By:
- Friez, Michael J.;
- Essop, Fahmida B.;
- Krause, Amanda;
- Castiglia, Lucia;
- Ragusa, Angela;
- Sossey-Alaoui, Khalid;
- Nelson, Retecher L.;
- May, Melanie M.;
- Michaelis, Ron C.;
- Srivastava, Anand K.;
- Schwartz, Charles E.;
- Stevenson, Roger E.;
- Goldman, Andrea;
- Villard, Laurent;
- Longshore, John W.
Publication type:
Article
Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?
Published in:
Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00054
By:
- Vorster, Elana;
- Essop, Fahmida B.;
- Rodda, John L.;
- Krause, Amanda
Publication type:
Article
Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD.
Published in:
Pediatric Nephrology, 2015, v. 30, n. 2, p. 273, doi. 10.1007/s00467-014-2917-1
By:
- Lambie, Lindsay;
- Amin, Rasheda;
- Essop, Fahmida;
- Cnaan, Avital;
- Krause, Amanda;
- Guay-Woodford, Lisa
Publication type:
Article
The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome.
Published in:
Familial Cancer, 2018, v. 17, n. 4, p. 607, doi. 10.1007/s10689-018-0075-5
By:
- Macaulay, Shelley;
- Goodyear, Quintin Clive;
- Kruger, Mia;
- Chen, Wenlong;
- Essop, Fahmida;
- Krause, Amanda
Publication type:
Article

Found: 5

Junctophilin 3 ( JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.

Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation.

Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?

Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD.

The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome.