Zeitschriftenartikel (30)
21.
Zeitschriftenartikel
12 (5), e1006022 (2016)
BOD1 Is Required for Cognitive Function in Humans and Drosophila. PLoS Genetics 22.
Zeitschriftenartikel
5, e16078 (2016)
Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. eLife 23.
Zeitschriftenartikel
58 (12), S. 715 - 718 (2015)
Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders. European Journal of Medical Genetics 24.
Zeitschriftenartikel
24 (20), S. 5697 - 5710 (2015)
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. Human Molecular Genetics 25.
Zeitschriftenartikel
23 (10), S. 1308 - 1317 (2015)
Redefining the MED13L syndrome. European journal of human genetics 26.
Zeitschriftenartikel
23 (10), S. 1378 - 1383 (2015)
Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait. European journal of human genetics 27.
Zeitschriftenartikel
96 (3), S. 386 - 396 (2015)
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. The American Journal of Human Genetics 28.
Zeitschriftenartikel
18 (3), S. 179 - 184 (2015)
New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families. Archives of Iranian Medicine 29.
Zeitschriftenartikel
10 (8), e0129631 (2015)
The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families. PLoS One 30.
Zeitschriftenartikel
5, 5:10247 (2015)
Evaluating information content of SNPs for sample-tagging in re-sequencing projects. Scientific Reports