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Items: 2

1.

Gne myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description.

Alrohaif H, Pogoryelova O, Al-Ajmi A, Aljeryan LA, Alrashidi NH, Alefasi SA, Urtizberea A, Lochmüller H, Bastaki L.

Muscle Nerve. 2018 Sep 7. doi: 10.1002/mus.26337. [Epub ahead of print]

PMID:
30192030
2.

Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome.

Alrohaif H, Töpf A, Evangelista T, Lek M, McArthur D, Lochmüller H.

Neurol Genet. 2018 Mar 19;4(2):e226. doi: 10.1212/NXG.0000000000000226. eCollection 2018 Apr. No abstract available.

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