PuSH - Publication Server of Helmholtz Zentrum München

5 Records found.
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1.
Fountain, M.D.* et al.: Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Genet. Med., accepted (2019)
2.
Parenti, I.* et al.: Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. Hum. Genet. 136, 307-320 (2017)
3.
Pozojevic, J.* et al.: Novel mosaic variants in two patients with Cornelia de Lange syndrome. Eur. J. Med. Genet. 61, 680-684 (2017)
4.
Parenti, I.* et al.: Expanding the clinical spectrum of the "HDAC8-phenotype" - implications for molecular diagnostics, counselling and risk prediction. Clin. Genet. 89, 564-573 (2016)
5.
Bramswig, N.C.* et al.: Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes. Hum. Genet. 134, 553-568 (2015)