Publications by authors named "Muddathir H A Hamad"

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An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Mahmoud Koko, Ashraf Yahia, Liena E Elsayed, Ahlam A Hamed, Inaam N Mohammed, Muddathir H A Hamad

Ann Hum Genet· September 2021

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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Woutje M Berdowski, Maysoon Alsagob, Muddathir H A Hamad

Acta Neuropathol· March 2020

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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 patient.
Maysoon Alsagob, Mustafa A Salih, Muddathir H A Hamad, Yusra Al-Yafee, Jawaher Al-Zahrani

Mol Cytogenet· May 2019

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NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME.
Igor Kozak, Darren T Oystreck, Khaled K Abu-Amero, Sawsan R Nowilaty, Hisham Alkhalidi, Muddathir H A Hamad

Retin Cases Brief Rep· September 2018

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Auto-immune anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis: three case reports.
Fahad A Bashiri, Abdulrahman A Al-Rasheed, Saeed M Hassan, Muddathir H A Hamad, Heba Y El Khashab

Paediatr Int Child Health· August 2017

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The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature.
Amal Y Kentab, Hamdy H Hassan, Muddathir H A Hamad, Ahmed Alhumidi

Sudan J Paediatr· August 2016

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Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.
Mustafa A Salih, Mohammed Z Seidahmed, Heba Y El Khashab, Muddathir H A Hamad, Thomas M Bosley

Tremor Other Hyperkinet Mov (N Y)· July 2015

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