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.
Bramswig, N.C.* et al.: Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Hum. Genet. 137, 753-768 (2018)
3.
Klopocki, E.* et al.: Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J. Med. Genet. 49, 119-125 (2012)
4.
Rauch, A.* et al.: Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study. Lancet 380, 1674-1682 (2012)
5.
Horn, D.* et al.: Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Hum. Mutat. 31, E1851-E1860 (2010)