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1.
Popp, B.* et al.: The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome. Clin. Genet. 103, 226-230 (2023)
2.
Weiss, K.J.* et al.: Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation. Clin. Genet. 103, 644-654 (2023)
3.
Christensen, M.B.* et al.: Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clin. Genet. 102, 98-109 (2022)
4.
Brunet, T.* et al.: De novo variants in neurodevelopmental disorders-experiences from a tertiary care center. Clin. Genet. 100, 14-28 (2021)
5.
Schuch, L.A.* et al.: FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs! Clin. Genet. 99, 789-801 (2021)
6.
Schwaibold, E.M.C.* ; Brugger, M.* & Wagner, M.: A C-terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR-associated syndromic microphthalmia. Clin. Genet. 100, 489-490 (2021)
7.
van der Ven, A.T.* et al.: Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort. Clin. Genet., DOI: 10.1111/cge.14061 (2021)
8.
Gold, N.B.* et al.: Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder. Clin. Genet. 98, 571-576 (2020)
9.
Kotzaeridou, U.* et al.: Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review. Clin. Genet. 98, 507-514 (2020)
10.
Panneman, D.M.* et al.: Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction. Clin. Genet. 97, 556-566 (2020)
11.
Westphal, D.S. et al.: Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing. Clin. Genet. 95, 582-589 (2019)
12.
Baumann, M.* et al.: MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. Clin. Genet. 95, 182-186 (2018)
13.
Braunisch, M.C.* et al.: Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. Clin. Genet. 93, 255-265 (2017)
14.
Bublitz, S.K.* et al.: Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration. Clin. Genet. 92, 561-562 (2017)
15.
Schormair, B. et al.: Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease. Clin. Genet. 93, 603-612 (2017)
16.
Umair, M. et al.: Homozygous XYLT2 variants as a cause of spondyloocular syndrome. Clin. Genet. 93, 913-918 (2017)
17.
Parenti, I.* et al.: Expanding the clinical spectrum of the "HDAC8-phenotype" - implications for molecular diagnostics, counselling and risk prediction. Clin. Genet. 89, 564-573 (2016)
18.
Baquero-Montoya, C.* et al.: Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. Clin. Genet. 86, 595-597 (2014)
19.
Elstner, M.* et al.: Familial carpal tunnel syndrome: Further evidence for a genetic contribution. Clin. Genet. 69, 179-182 (2006)
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