Publications:

The genetic landscape of inherited retinal dystrophies in Arabs.

Bmc Medical Genomics

Jaffal, Lama L; Joumaa, Hawraa H; Noureldine, Jinane J; Banjak, Malak M; Ibrahim, Mariam M; Mrad, Zamzam Z; Salami, Ali A; Shamieh, Said El SE

Publication Date: 2023-05-01

Variant appearance in text: ABCA4: 1916A>G

PubMed Link: 37127645

Variant Present in the following documents:

• 12920_2023_1518_MOESM2_ESM.xlsx, sheet 1

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Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Orphanet Journal Of Rare Diseases

Bouzidi, Aymane A; Charoute, Hicham H; Charif, Majida M; Amalou, Ghita G; Kandil, Mostafa M; Barakat, Abdelhamid A; Lenaers, Guy G

Publication Date: 2022-05-12

Variant appearance in text: ABCA4: 1916A>G; Tyr639Cys

PubMed Link: 35551639

Variant Present in the following documents:

• 13023_2022_2340_MOESM2_ESM.xlsx, sheet 1

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Genetic spectrum of retinal dystrophies in Tunisia.

Scientific Reports

Habibi, Imen I; Falfoul, Yosra Y; Turki, Ahmed A; Hassairi, Asma A; El Matri, Khaled K; Chebil, Ahmed A; Schorderet, Daniel F DF; El Matri, Leila L

Publication Date: 2020-07-08

Variant appearance in text: ABCA4: Y639C

PubMed Link: 32641690

Variant Present in the following documents:

• Main text
• 41598_2020_Article_67792.pdf

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