Search Results - "Rust, Stephan"

Mitochondrial DNA mutations in Medulloblastoma.

Authors: Funke, Viktoria L. E. Sandmann, Sarah Melcher, Viktoria et al.

Source: Acta Neuropathologica Communications. 7/27/2023, Vol. 11 Issue 1, p1-4. 4p.

SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.

Authors: Arlt, Annabelle Akova-Öztürk, Esra Schirmacher, Anja et al.

Source: Journal of Neurogenetics. Jun2024, Vol. 38 Issue 2, p35-40. 6p.

A mutation in the neonatal isoform of SCN2A causes neonatal‐onset epilepsy.

Authors: Penkl, Anja Reunert, Janine Debus, Otfried M. et al.

Source: American Journal of Medical Genetics. Part A; Mar2022, Vol. 188 Issue 3, p941-947, 7p

Cerebro‐oculo‐facio‐skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.

Authors: Reunert, Janine Heuvel, Alijda Rust, Stephan et al.

Source: American Journal of Medical Genetics. Part A; Mar2021, Vol. 185 Issue 3, p930-936, 7p

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.

Authors: Park, Julien H Elpers, Christiane Reunert, Janine et al.

Source: Brain: A Journal of Neurology; Aug2019, Vol. 142 Issue 8, p2230-2237, 8p

Transient N‐glycosylation abnormalities likely due to a de novo loss‐of‐function mutation in the delta subunit of coat protein I.

Authors: Reunert, Janine Rust, Stephan Grüneberg, Marianne et al.

Source: American Journal of Medical Genetics. Part A; Jul2019, Vol. 179 Issue 7, p1371-1375, 5p

The wage effects of offshoring to the East and West: evidence from the German labor market.

Authors: Koerner, Konstantin^1,2,3 (AUTHOR) konstantin.koerner@iab.de

Source: Review of World Economics. May2023, Vol. 159 Issue 2, p399-435. 37p.

Uridine Treatment of the First Known Case of SLC25A36 Deficiency.

Authors: Jasper, Luisa Scarcia, Pasquale Rust, Stephan et al.

Source: International Journal of Molecular Sciences. Sep2021, Vol. 22 Issue 18, p9929. 1p.

Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.

Authors: Rust, Stephan

Source: Nature Genetics. Nov98, Vol. 20 Issue 3, p312. 1p.

CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia.

Authors: Arjona, Francisco J. de Baaij, Jeroen H. F. Schlingmann, Karl P. et al.

Source: PLoS Genetics. Apr2014, Vol. 10 Issue 4, p1-17. 17p.

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.

Authors: Reunert, Janine Wentzell, Rüdiger Walter, Michael et al.

Source: European Journal of Human Genetics. Sep2012, Vol. 20 Issue 9, p933-937. 5p. 1 Color Photograph, 1 Black and White Photograph, 1 Diagram, 1 Chart, 1 Graph.

Multiple QTL influence the serum Lp(a) concentration: a genome-wide linkage screen in the PROCARDIS study.

Authors: Barlera, Simona Specchia, Claudia Farrall, Martin et al.

Source: European Journal of Human Genetics. Feb2007, Vol. 15 Issue 2, p221-227. 7p. 3 Charts, 2 Graphs.

Genome-Wide Mapping of Susceptibility to Coronary Artery Disease Identifies a Novel Replicated Locus on Chromosome 17.

Authors: Farrall, Martin Green, Fiona R. Peden, John F. et al.

Source: PLoS Genetics. May2006, Vol. 2 Issue 5, pe72-0761. 7p. 2 Charts, 7 Graphs.

Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.

Authors: Quitmann, Christina M. Rust, Stephan Reunert, Janine et al.

Source: Child neurology open 1/1/2021.

Journal Info: Publisher: Sage Publications Inc. ISSN: 2329-048X

It Is Not Always Alcohol Abuse—A Transferrin Variant Impairing the CDT Test.

Authors: Zühlsdorf, Andrea Said, Michael Seger, Christoph et al.

Source: Alcohol and alcoholism: international journal of the Medical Council on Alcoholism Mar/Apr2016; Vol. 51 (2).

Journal Info: Publisher: Oxford University Press / USA ISSN: 0735-0414

SLC39A8 gene encoding a metal ion transporter: discovery and bench to bedside.

Authors: Nebert DW Liu Z

Source: Human genomics [Hum Genomics] 2019 Sep 14; Vol. 13 (Suppl 1), pp. 51. Date of Electronic Publication: 2019 Sep 14.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE

A missense variant in SLC39A8 is associated with severe idiopathic scoliosis.

Authors: Haller G McCall K Jenkitkasemwong S et al.

Source: Nature communications [Nat Commun] 2018 Oct 09; Vol. 9 (1), pp. 4171. Date of Electronic Publication: 2018 Oct 09.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE