Zeitschriftenartikel (28)
11.
Zeitschriftenartikel
27 (18), S. 3177 - 3188 (2018)
Biallelic missense variants in ZBTB11 can cause intellectual disability in humans. Hum Mol Genet 12.
Zeitschriftenartikel
23 (2), S. 222 - 230 (2018)
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Molecular Psychiatry 13.
Zeitschriftenartikel
A mouse model for intellectual disability caused by mutations in the X-linked 2'Omethyltransferase Ftsj1 gene. Biochim Biophys Acta Mol Basis Dis, S0925-4439(18)30497-6 (2018)
14.
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 15.
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 16.
Zeitschriftenartikel
13 (4), e1006746 (2017)
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. PLoS Genetics 17.
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 18.
Zeitschriftenartikel
24 (3), S. 392 - 399 (2016)
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration. European journal of human genetics 19.
Zeitschriftenartikel
12 (5), e1006022 (2016)
BOD1 Is Required for Cognitive Function in Humans and Drosophila. PLoS Genetics 20.
Zeitschriftenartikel
5, e16078 (2016)
Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. eLife