Publikationen Abt. Molekulare Humangenetik (H.-Hilger Ropers)
Zeitschriftenartikel (8)
1.
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 2.
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 3.
Zeitschriftenartikel
23 (10), S. 1308 - 1317 (2015)
Redefining the MED13L syndrome. European journal of human genetics 4.
Zeitschriftenartikel
23 (10), S. 1378 - 1383 (2015)
Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait. European journal of human genetics 5.
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 6.
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 7.
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 8.
Zeitschriftenartikel
5, 5:10247 (2015)
Evaluating information content of SNPs for sample-tagging in re-sequencing projects. Scientific Reports