Fahmida B. Essop

Johannesburg, GT, South Africa

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 15 publications

Expression of genetic peripheral neuropathies in South African children.

Expression of genetic peripheral neuropathies in South African children.

Journal: Neuromuscular disorders : NMD

Published: July 06, 2025

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System.

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System.

Journal: Molecular genetics & genomic medicine

Published: May 14, 2025

Correction: STAC3 disorder: a common cause of congenital hypotonia in Southern African patients.

Correction: STAC3 disorder: a common cause of congenital hypotonia in Southern African patients.

Journal: European journal of human genetics : EJHG

Published: July 30, 2024

The First Case of Huntington's Disease like 2 in Mali, West Africa.

The First Case of Huntington's Disease like 2 in Mali, West Africa.

Journal: Tremor and other hyperkinetic movements (New York, N.Y.)

Published: January 10, 2024

STAC3 disorder: a common cause of congenital hypotonia in Southern African patients.

STAC3 disorder: a common cause of congenital hypotonia in Southern African patients.

Journal: European journal of human genetics : EJHG

Published: August 28, 2023

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

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

Journal: Frontiers in genetics

Published: November 16, 2018

Fanconi anaemia in South Africa: Past, present and future.

Fanconi anaemia in South Africa: Past, present and future.

Journal: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde

Published: April 25, 2018

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

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

Journal: Familial cancer

Published: February 03, 2018

A novel FKRP-related muscular dystrophy founder mutation in South African Afrikaner patients with a phenotype suggestive of a dystrophinopathy.

A novel FKRP-related muscular dystrophy founder mutation in South African Afrikaner patients with a phenotype suggestive of a dystrophinopathy.

Journal: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde

Published: December 21, 2016

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.

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.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: May 28, 2015

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

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

Journal: Pediatric nephrology (Berlin, Germany)

Published: February 12, 2014

Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa.

Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa.

Journal: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde

Published: July 16, 2013

Showing 1-12 of 15

Last Updated: 09/26/2026