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The clinical significance of small copy number variants in neurodevelopmental disorders.
J Med Genet. 2014 Oct;51(10):677-88. doi: 10.1136/jmedgenet-2014-102588. Epub 2014 Aug 8.
J Med Genet. 2014.
PMID: 25106414
Free PMC article.
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.
Spiegler S, Najm J, Liu J, Gkalympoudis S, Schröder W, Borck G, Brockmann K, Elbracht M, Fauth C, Ferbert A, Freudenberg L, Grasshoff U, Hellenbroich Y, Henn W, Hoffjan S, Hüning I, Korenke GC, Kroisel PM, Kunstmann E, Mair M, Munk-Schulenburg S, Nikoubashman O, Pauli S, Rudnik-Schöneborn S, Sudholt I, Sure U, Tinschert S, Wiednig M, Zoll B, Ginsberg MH, Felbor U.
Spiegler S, et al. Among authors: sudholt i.
Mol Genet Genomic Med. 2014 Mar;2(2):176-85. doi: 10.1002/mgg3.60. Epub 2014 Jan 14.
Mol Genet Genomic Med. 2014.
PMID: 24689081
Free PMC article.
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