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Collection : Maastricht University Research Publications

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Academic Journal

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

Authors : Grange, Laura J; Reynolds, John J; Ullah, Farid

Subjects: Humans; Cell Cycle Proteins/genetics; Microcephaly/genetics

Source: Grange , L J , Reynolds , J J , Ullah , F , Isidor , B , Shearer , R F , Latypova , X , Baxley , R M , Oliver , A W , Ganesh , A , Cooke , S L , Jhujh , S S , McNee , G S , Hollingworth , R , Higgs ,

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Academic Journal

Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation

Authors : Luijk, Rene; Wu, Haoyu; Ward-Caviness, Cavin K.

Subjects: HUMAN GENOME; LINKED GENE; HISTONE H3

Source: Luijk , R , Wu , H , Ward-Caviness , C K , Hannon , E , Carnero-Montoro , E , Min , J L , Mandaviya , P , Muller-Nurasyid , M , Mei , H , van der Maarel , S M , Relton , C , Mill , J , Waldenberger ,

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