Ahmed M Almatrafi

5PUBLICATIONS
11CO-AUTHORS
Medical infection agents (incl. prions)Obstetrics and gynaecologyNeurology and neuromuscular diseasesGene mapping
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Publications (5)

|Jul 27, 2024
Exome Sequence Analysis to Characterize Undiagnosed Family Segregating Motor Impairment and Dystonia.

Ahmad M Almatrafi, Abdulfatah M Alayoubi, Majed Alluqmani

|Nov 25, 2023
Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up.

Ahmad M Almatrafi, Majed M Alluqmani, Sulman Basit

|Oct 01, 2022
Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion.

Asmat Ullah, Abid Ali Shah, Majed Alluqmani

|Apr 29, 2021
Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome.

Alia M Albalawi, Jamil A Hashmi, Fatima Alfadhli

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