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16 Records found.
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1.
Park, J.* et al.: KCNC1-related disorders: New de novo variants expand the phenotypic spectrum. Ann. Clin. Transl. Neurol., accepted (2019)
2.
Fritzen, D.* et al.: De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies. Hum. Genet. 137, 401-411 (2018)
3.
Reijnders, M.R.F.* et al.: De novo and inherited loss-of-function variants in TLK2: Clinical and genotype-phenotype evaluation of a distinct neurodevelopmental disorder. Am. J. Hum. Genet. 102, 1195-1203 (2018)
4.
Anikster, Y.* et al.: Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability. Am. J. Hum. Genet. 100, 257-266 (2017)
5.
Bramswig, N.C.* et al.: Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Hum. Genet. 136, 179-192 (2017)
6.
Dennert, N.* et al.: De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. Am. J. Med. Genet. A 173, 435-443 (2017)
7.
Redler, S.* et al.: Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. Eur. J. Hum. Genet. 25, 889-893 (2017)
8.
Schäfgen, J.* et al.: De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. Eur. J. Hum. Genet. 24, 1739-1745 (2016)
9.
Srivastava, S.* et al.: Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Eur. J. Hum. Genet. 24, 556-561 (2016)
10.
Witteveen, J.S.* et al.: Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. Nat. Genet. 48, 877-887 (2016)
11.
Haack, T.B. et al.: Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann. Clin. Transl. Neurol. 2, 492-509 (2015)
12.
Hempel, M.* et al.: De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment. Am. J. Hum. Genet. 97, 493-500 (2015)
13.
Kuechler, A.* et al.: De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: Expanding the mutational and clinical spectrum. Hum. Genet. 134, 97-109 (2015)
14.
Kuechler, A.* et al.: Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. Eur. J. Hum. Genet. 23, 753-760 (2014)
15.
Rauch, A.* et al.: Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study. Lancet 380, 1674-1682 (2012)
16.
Lustig, S. et al.: Capability of flatbed electrophoresis (IEF and native PAGE) combined with sector field ICP-MS and autoradiography for the speciation of Cr, Ga, In, Pt and V in incubated serum samples. J. Anal. Atom. Spectrom. 14, 1357-1362 (1999)