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MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.
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
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
Latorre-Pellicer A, Gil-Salvador M, Parenti I, Lucia-Campos C, Trujillano L, Marcos-Alcalde I, Arnedo M, Ascaso Á, Ayerza-Casas A, Antoñanzas-Pérez R, Gervasini C, Piccione M, Mariani M, Weber A, Kanber D, Kuechler A, Munteanu M, Khuller K, Bueno-Lozano G, Puisac B, Gómez-Puertas P, Selicorni A, Kaiser FJ, Ramos FJ, Pié J.
Latorre-Pellicer A, et al. Among authors: khuller k.
Sci Rep. 2021 Jul 29;11(1):15459. doi: 10.1038/s41598-021-94958-z.
Sci Rep. 2021.
PMID: 34326454
Free PMC article.
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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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