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Molecular Cytogenetics|May 28, 2019
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patientMaysoon Alsagob, Mustafa A Salih, Muddathir H A Hamad, et al.
Paediatrics and International Child Health|February 7, 2017
Prevalence of epilepsy in 74,949 school children in Khartoum State, SudanInaam N Mohamed, Maha A Elseed, Ahlam A Hamed, et al.
Journal of Medical Genetics|April 27, 2013
Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismusAnas M Alazami, Hadia Hijazi, Mohammed S Al-Dosari, et al.
BMC Medical Genetics|February 26, 2011
Molecular and neurological characterizations of three Saudi families with lipoid proteinosisMustafa A Salih, Khaled K Abu-Amero, Saleh Alrasheed, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|July 24, 2015
Mutation in GM2A Leads to a Progressive Chorea-dementia SyndromeMustafa A Salih, Mohammed Z Seidahmed, Heba Y El Khashab, et al.
BMC Neurology|July 17, 2016
Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case reportMohammed Zain Seidahmed, Mustafa A Salih, Omer B Abdulbasit, et al.
Genetic Testing and Molecular Biomarkers|December 17, 2021
Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital TitinopathiesMustafa A Salih, Muddathir H Hamad, Marco Savarese, et al.
Retinal Cases & Brief Reports|March 16, 2017
NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROMEIgor Kozak, Darren T Oystreck, Khaled K Abu-Amero, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|January 4, 2014
Neurologic injury in isolated sulfite oxidase deficiencyThomas M Bosley, Ibrahim A Alorainy, Darren T Oystreck, et al.
BMC Neurology|October 25, 2018
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case reportAshraf Yahia, Liena Elsayed, Arwa Babai, et al.
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