Zeitschriftenartikel (30)
11.
Zeitschriftenartikel
95 (1), S. 151 - 159 (2019)
Effect of inbreeding on intellectual disability revisited by Trio sequencing. Clinical Genetics: an international journal of genetics in medicine 12.
Zeitschriftenartikel
177 (8), S. 691 - 699 (2018)
CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability. Am J Med Genet B Neuropsychiatr Genet 13.
Zeitschriftenartikel
27 (18), S. 3177 - 3188 (2018)
Biallelic missense variants in ZBTB11 can cause intellectual disability in humans. Hum Mol Genet 14.
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 15.
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)
16.
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 17.
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 18.
Zeitschriftenartikel
13 (4), e1006746 (2017)
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. PLoS Genetics 19.
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 20.
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