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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Nov 30, 2023. (Total: 223474Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Cysts and MLC1[original query]
Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.
Annals of neurology 2018 Jun .
Jia Xiaoming, Madireddy Lohith, Caillier Stacy, Santaniello Adam, Esposito Federica, Comi Giancarlo, Stuve Olaf, Zhou Yuan, Taylor Bruce, Kilpatrick Trevor, Martinelli-Boneschi Filippo, Cree Bruce A C, Oksenberg Jorge R, Hauser Stephen L, Baranzini Sergio
Novel variants causing megalencephalic leukodystrophy in Sudanese families.
Journal of human genetics 2021 Sep .
Amin Mutaz, Vignal Cedric, Hamed Ahlam A A, Mohammed Inaam N, Elseed Maha A, Drunat Severine, Babai Arwa, Eltaraifee Esraa, Elbadi Iman, Abubaker Rayan, Mustafa Doaa, Yahia Ashraf, Koko Mahmoud, Osman Melka, Bakhit Yousuf, Elshafea Azza, Alsiddig Mohamed, Haroun Sahwah, Lelay Gurvan, Elsayed Liena E O, Ahmed Ammar E, Boespflug-Tanguy Odile, Dorboz Im
Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families.
Brain & development 2022 4 44 (7): 454-461.
Khalaf-Nazzal Reham, Dweikat Imad, Maree Mosab, Alawneh Maysa, Barahmeh Myassar, Doulani Rasha T, Qrareya Mohammad, Qadi Mohammad, Dudin Anw
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