PuSH - Publication Server of Helmholtz Zentrum München

3 Records found.
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1.
Mahler, E.A.* et al.: Exome Sequencing in Children Undiagnosed Developmental Delay and Neurological Illness. Dtsch. Arztebl. Int. 116, 197-204 (2019)
2.
Verheije, R.* et al.: Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability. Eur. J. Hum. Genet. 27, 278-290 (2019)
3.
Kim, J.H.* et al.: De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome. Am. J. Hum. Genet. 99, 711-719 (2016)