Concepedia

Fahmida Essop

FE

Statistics

Publications

6

Citations

165

H-Index

6

Active since

2000

Affiliations

University of the Witwatersrand(Current)

National Health Laboratory Service

Fahmida Essop is an author at University of the Witwatersrand specializing in genetics, human genetics, and genetic disorders.

ORCID

Publications per year

2000–2020

6

Publications

6

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

Amanda Krause, Claire Mitchell, Fahmida Essop et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2015 · 57 citations

, , +17

Chimerism in Black Southern African Patients with True Hermaphroditism 46,XX/47XY,+21 and 46,XX/46,XY

Michèle Ramsay, Wilma M. Pfaffenzeller, Elliott Kotze et al. · Annals of the New York Academy of Sciences · 2008 · 39 citations

, , +15

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

Lindsay Lambie, Rasheda Amin, Fahmida Essop et al. · Pediatric Nephrology · 2014 · 22 citations

, , +8

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

Elana Vorster, Fahmida Essop, J. Rodda et al. · Frontiers in Genetics · 2020 · 20 citations · Full text

, , +17

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

Michael J. Friez, Fahmida Essop, Amanda Krause et al. · Human Genetics · 2000 · 15 citations

, , +8

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