PuSH - Publication Server of Helmholtz Zentrum München

18 Records found.
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1.
Mahler, E.A.* et al.: Exome sequencing in children undiagnosed developmental delay and neurological illness. Dtsch. Arztebl. Int. 116, 197-204 (2019)
2.
Lessel, D.* et al.: BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain 141, 2299-2311 (2018)
3.
Müller, K.* et al.: Comprehensive analysis of the mutation spectrum in 301 German ALS families. J. Neurol. Neurosurg. Psychiatr. 89, 817-827 (2018)
4.
Yang, Y.* et al.: Molecular genetic overlap between migraine and major depressive disorder. Eur. J. Hum. Genet. 26, 1202-1216 (2018)
5.
Hempel, M.* et al.: Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies. Hum. Genet. 136, 339-346 (2017)
6.
Kloth, K.* et al.: First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features. Eur. J. Med. Genet. 60, 494-498 (2017)
7.
Lessel, D.* et al.: De novo missense mutations in DHX30 impair global translation and cause a neurodevelopmental disorder. Am. J. Hum. Genet. 101, 716-724 (2017)
8.
Said, E.* et al.: Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. Am. J. Med. Genet. A 173, 3098-3103 (2017)
9.
Gormley, P.* et al.: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. Nat. Genet. 48, 856-866 (2016)
10.
Zhao, H.* et al.: Gene-based pleiotropy across migraine with aura and migraine without aura patient groups. Cephalalgia 36, 648-657 (2016)
11.
Hempel, M.* et al.: De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment. Am. J. Hum. Genet. 97, 493-500 (2015)
12.
Nyholt, D.R.* et al.: Concordance of genetic risk across migraine subgroups: Impact on current and future genetic association studies. Cephalalgia 35, 489-499 (2015)
13.
Anttila, V.* et al.: Genome-wide meta-analysis identifies new susceptibility loci for migraine. Nat. Genet. 45, 912-917 (2013)
14.
Sauter, D.* et al.: A rare missense variant abrogates the signaling activity of tetherin/BST-2 without affecting its effect on virus release. Retrovirol. 10:85 (2013)
15.
Freilinger, T.* et al.: Genome-wide association analysis identifies susceptibility loci for migraine without aura. Nat. Genet. 44, 777-782 (2012)
16.
Anttila, V.* et al.: Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nat. Genet. 42, 869-873 (2010)
17.
Meindl, A.* et al.: Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat. Genet. 42, 410-414 (2010)
18.
Kalay, E.* et al.: Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum. Mutat. 27, 633-639 (2006)