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Next-generation panel sequencing identifies NF1 germline ...Oxford University Press
academic.oup.com
von L Gieldon · · Zitiert von: 23 — Andreas Rump,. Andreas Rump. Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden. ,. Dresden. ,. Germany.
A splice-supporting intronic mutation in the last bp position ...ScienceDirect
www.sciencedirect.com
von A Rump · · Zitiert von: 22 — of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD). Author links open overlay panel. Andreas Rump a
Gene panel testing of BRCA1/2-negative index ...Uni Augsburg
opus.bibliothek.uni-augsburg.de
von J Hauke · · Zitiert von: 139 — ... Christian Ruckert, Barbara Wappenschmidt, Bernd Auber, Andreas Rump, Dieter Niederacher, Thomas Haaf, Juliane Ramser, Bernd Dworniczak, ...
Range of genetic mutations associated with severe non- ...Uni Augsburg
opus.bibliothek.uni-augsburg.de
von A Rauch · · Zitiert von: — ... Christiane Zweier, Arif B Ekici, Alexander M Zink, Andreas Rump, Christa Meisinger, Harald Grallert, Heinrich Sticht, Annette Schenck, ...
Prevalence of cancer predisposition germline variants in ...Universität Würzburg
opus.bibliothek.uni-wuerzburg.de
von M Rolfes · · Zitiert von: 6 — ... Judit Horváth, Norbert Arnold, Alfons Meindl, Bernd Auber, Andreas Rump, Shan Wang-Gohrke, Julia Ritter, Julia Hentschel, Holger Thiele, ...
Pseudoautosomal deletions encompassing a novel ...Nature Journal
www.nature.com
von E Rao · · Zitiert von: — Maki Fukami and Andreas Rump: M.R & A.R. contributed equally to this work. Authors and Affiliations. Institute of Human Genetics, Heidelberg ...
Partial deletion of GLRB and GRIA2 in a patient with Nature
www.nature.com
von K Hackmann · · Zitiert von: 31 — Karl Hackmann, Sarah Matko, Eva-Maria Gerlach, Barbara Klink, Evelin Schrock, Andreas Rump & Nataliya Di Donato. Abteilung Neuropädiatrie, Klinik und ... › articles
Andreas Rump - Info zur Person mit Bilder, News & Links - Yasni
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Web166 Ergebnisse zu Andreas Rump: Nataliya Di Donato, Evelin, Dresden, Karl Hackmann, Zitiert, Gieldon, Institute, Julia, Laura, Arne
A frameshift mutation in BRCA1 leads to hereditary breast and ...
go.gale.com
von L Gieldon · · Zitiert von: 1 — Author(s): Laura Gieldon , Johannes Wagner , Andreas Rump Author Affiliations: (1) Core Unit for Molecular Tumordiagnostics (CMTD), ... › i.do
A mosaic maternal splice donor mutation in the EHMT1 gene ...
europepmc.org
von A Rump · · Zitiert von: 19 — A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring. Andreas Rump. Institut für ... › med
Cancer Risks Associated With BRCA1 and BRCA2 ...
ascopubs.org
von S Li · · Zitiert von: 39 — ... Joanne Ngeow Yuen Yie, Dieter Niederacher, Susan J. Ramus, Muhammad U. Rashid, Andreas Rump, Marta Santamariña, Rita K. Schmutzler, ... › jco
Identification and Characterization of a Novel ...Europe PMC
europepmc.org
von N Di Donato · · Zitiert von: 13 — Nataliya Di Donato,1,2,*# Andreas Rump,1,* Ghayda M. Mirzaa,2,3 Diana Alcantara,4 Antony Oliver,4 Evelin Schrock,1 William B. Dobyns,2,3 and Mark ...
Next-generation panel sequencing identifies NF1 germline ...
eje.bioscientifica.com
von L Gieldon · · Zitiert von: 20 — Andreas Rump. Andreas RumpInstitute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany › eje
Solving patients with rare diseases through programmatic ...
hal.archives-ouvertes.fr
von L Matalonga · · Zitiert von: 18 — ... Gareth Evans Jose Garcia Pelaez Elke Holinski-Feder Nicoline Hoogerbrugge Andreas Laner Carla Oliveira Andreas Rump Evelin Schröck Anna Katharina Sommer ... › ha...
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