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Zeitschriftenartikel (203)
21.
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 22.
Zeitschriftenartikel
23 (10), S. 1308 - 1317 (2015)
Redefining the MED13L syndrome. European journal of human genetics 23.
Zeitschriftenartikel
23 (10), S. 1378 - 1383 (2015)
Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait. European journal of human genetics 24.
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 25.
Zeitschriftenartikel
23 (3), S. 331 - 336 (2015)
A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability. European journal of human genetics 26.
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 27.
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 28.
Zeitschriftenartikel
5, 5:10247 (2015)
Evaluating information content of SNPs for sample-tagging in re-sequencing projects. Scientific Reports 29.
Zeitschriftenartikel
36 (1), S. 106 - 117 (2015)
Variants in CUL4B are Associated with Cerebral Malformations. Human Mutation 30.
Zeitschriftenartikel
1 (12), S. 1024 - 1035 (2014)
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. Annals of Clinical and Translational Neurology 31.
Zeitschriftenartikel
35 (12), S. 1427 - 1435 (2014)
Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations. Human Mutation 32.
Zeitschriftenartikel
23 (23), S. 6163 - 6176 (2014)
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia. Human Molecular Genetics 33.
Zeitschriftenartikel
51 (6), S. 375 - 387 (2014)
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum. Journal of Medical Genetics 34.
Zeitschriftenartikel
13, S. 91 - 99 (2014)
A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females. JIMD Reports 35.
Zeitschriftenartikel
13 (10), S. 1650 - 1651 (2014)
Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations. Cell Cycle 36.
Zeitschriftenartikel
30 (1), S. 32 - 39 (2014)
Genetics of recessive cognitive disorders. Trends in Genetics 37.
Zeitschriftenartikel
161A (12), S. 3063 - 3071 (2013)
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. American Journal of Medical Genetics Part A 38.
Zeitschriftenartikel
161A (8), S. 1915 - 1922 (2013)
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. American Journal of Medical Genetics Part A 39.
Zeitschriftenartikel
92 (5), S. 681 - 695 (2013)
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. The American Journal of Human Genetics 40.
Zeitschriftenartikel
83 (5), S. 488 - 490 (2013)
Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations. Clinical Genetics: an international journal of genetics in medicine