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Author/Creator Almatrafi, Ahmad

1. A homozygous missense variant in the homeobox domain of the NKX6‐2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations. (16th April 2020)

Authors:
Almatrafi, Ahmad; Umair, Muhammad; Eldardear, Amr; Al‐Luqmani, Majid; Hashmi, Jamil A.; Albalawi, Alia M.; Alfadhel, Majid; Ramzan, Khushnooda; Basit, Sulman
Journal:
Journal of gene medicine
Issue:
Volume 22:Number 8(2020)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration. Issue 4 (17th December 2021)

Authors:
Ain ul Batool, Syeda; Almatrafi, Ahmad; Fadhli, Fatima; Alluqmani, Majed; Sadia, ; Ali, Ghazanfar; Basit, Sulman
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 4(2022)
Page Start:
1075
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗