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Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
Sci Rep. 2021 Jul 29;11(1):15459. doi: 10.1038/s41598-021-94958-z.
Sci Rep. 2021.
PMID: 34326454
Free PMC article.
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.
Khuller K, Yigit G, Martínez Grijalva C, Altmüller J, Thiele H, Nürnberg P, Elcioglu NH, Yeter B, Hehr U, Stein A, Della Marina A, Köninger A, Depienne C, Kaiser FJ, Wollnik B, Kuechler A.
Khuller K, et al.
Eur J Med Genet. 2021 Oct;64(10):104310. doi: 10.1016/j.ejmg.2021.104310. Epub 2021 Aug 13.
Eur J Med Genet. 2021.
PMID: 34400370
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Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients.
Türk M, Schröder R, Khuller K, Hofmann A, Berwanger C, Ludolph AC, Dekomien G, Müller K, Weishaupt JH, Thiel CT, Clemen CS.
Türk M, et al. Among authors: khuller k.
Neurobiol Aging. 2017 Aug;56:213.e1-213.e5. doi: 10.1016/j.neurobiolaging.2017.04.023. Epub 2017 May 3.
Neurobiol Aging. 2017.
PMID: 28551275
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