Publikationen Abt. Molekulare Humangenetik (H.-Hilger Ropers)
Zeitschriftenartikel (4)
1.
Zeitschriftenartikel
101 (3), S. 428 - 440 (2017)
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. The American Journal of Human Genetics 2.
Zeitschriftenartikel
38 (6), S. 621 - 636 (2017)
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. Human Mutations 3.
Zeitschriftenartikel
13 (4), e1006746 (2017)
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. PLoS Genetics 4.
Zeitschriftenartikel
25 (2), S. 253 - 256 (2017)
Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). European journal of human genetics