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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)
Parenti, I.* et al.: Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. Hum. Genet. 136, 307-320 (2017)
Pozojevic, J.* et al.: Novel mosaic variants in two patients with Cornelia de Lange syndrome. Eur. J. Med. Genet. 61, 680-684 (2017)
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)
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)
Hollstein, R.* et al.: HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. J. Med. Genet. 52, 797-803 (2015)
Baquero-Montoya, C.* et al.: Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. Clin. Genet. 86, 595-597 (2014)
Bürk, K.* et al.: A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression. Eur. J. Med. Genet. 57, 207-211 (2014)
Platzer, K.* et al.: Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. Am. J. Med. Genet. A 164, 1976-1980 (2014)
Erdmann, J.* et al.: Dysfunctional nitric oxide signalling increases risk of myocardial infarction. Nature 504, 432-436 (2013)