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Clinical Genetics|April 15, 2020
PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephalyAmjad Khan, Manal Alaamery, Salam Massadeh, et al.Journal of Medical Genetics|April 23, 2013
A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiencyRanad Shaheen, Shinu Ansari, Muneera J Alshammari, et al.Journal of Child Neurology|July 18, 2018
Epilepsy in Propionic Acidemia: Case Series of 14 Saudi PatientsAfnan AlGhamdi, Muhammad Talal Alrifai, Abdullah I Al Hammad, et al.Frontiers in Genetics|January 31, 2024
Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi ArabiaManal Alaamery, Salam Massadeh, Manar Aldarwish, et al.Journal of Medical Case Reports|September 23, 2017
X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case reportAmna Malik, Ahmed Bait Amer, Mohammed Salama, et al.Human Genome Variation|June 6, 2017
Early onset of Fazio-Londe syndrome: the first case report from the Arabian PeninsulaMohammad Arif Hossain, Abdulrahman Obaid, Mohammad Rifai, et al.Annals of Human Genetics|May 14, 2020
MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific databaseLamia Alsubaie, Randa Alkhalaf, Taghrid Aloraini, et al.Journal of Child Neurology|June 7, 2024
Genetic Microcephaly in a Saudi Population: Unique Spectrum of Affected Genes Including a Novel OneMuhammad Talal Alrifai, Yousof Alrumayyan, Duaa Baarmah, et al.Developmental Cell|November 6, 2007
The genetic basis of a craniofacial disease provides insight into COPII coat assemblyJ Christopher Fromme, Mariella Ravazzola, Susan Hamamoto, et al.Molecular Genetics & Genomic Medicine|September 5, 2022
Spinal muscular atrophy carrier frequency in Saudi ArabiaMohammed Al Jumah, Saad Al Rajeh, Wafaa Eyaid, et al.Pageof 7