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PTEN postzygotic mosaicism in clinically ...Radboud Repository
repository.ubn.ru.nl
von LAJ Hendricks · · Zitiert von: 5 — Astrid Eijkelenboom e, Kirsten Cremer c, Arjen R. Mensenkamp a, Stefan Aretz c,d,1,. Janet R. Vosa,b,1, Nicoline Hoogerbrugge a,f,*,1 a ...
Variants in FGF10 cause early onset of severe childhood ...Wiley Online Library
onlinelibrary.wiley.com
von K Schütz · · Zitiert von: 2 — ... Kirsten Cremer MD,. Kirsten Cremer MD. Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn ...
Article PEDIA: prioritization of exome data by image analysisScienceDirect
www.sciencedirect.com
von TC Hsieh · · Zitiert von: 78 — Marie Coutelier MD 2 , Kirsten Cremer MD 12 , Magdalena Danyel MD 2 , Svenja Daschkey PhD 13 , Hilda David Eden MS 5 , Koenraad Devriendt MD 14 , Sandra Wilson ...
Microdeletions in 9q33.3-q in Molecular Cytogenetics
molecularcytogenetics.biomedcentral.com
von JK Ehret · · Zitiert von: 14 — Julia K. Ehret, Hartmut Engels, Kirsten Cremer, Jessica Becker, Johannes P. Zimmermann, Eva Wohlleber, Elisabeth Mangold, Stefanie Schön, ... › ...
New insights into the clinical and molecular spectrum of ...Archive ouverte HAL
hal.science
von A Begemann · · Zitiert von: 33 — ... Kirsten Cremer , Robert Day , Anne-Sophie Denommé-Pichon (1, 2) , Dave Dyment , Hartmut Engels , Rachel Fisher , Elaine Goh , M. Hajianpour , Lucia Ribeiro ...
Ernährung und Bewegung im KleinkindalterUni Mannheim
madoc.bib.uni-mannheim.de
von M Abou-Dakn · · Zitiert von: 2 — Ernährung und Bewegung im Kleinkindalter. Abou-Dakn, Michael ; Alexy, Ute ; Beyer, Kirsten ; Cremer, Monika ; Ensenauer, Regina ; Flothkötter, Maria ; Geene ...
Loss-of-function variants in HIVEP2 are a cause ...Nature Journal
www.nature.com
von S Srivastava · · Zitiert von: 46 — Hartmut Engels, Kirsten Cremer, Martina Kreiß & Alexander M Zink. Institute of Human Genetics, University Hospital Magdeburg, Magdeburg ...
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent...
research.vumc.nl
von A Kuechler · · Zitiert von: 78 — ... Dennis W Bartholomew, Hans van Bokhoven, Marie Jose H van den Boogaard, Nuria Bramswig, Christian Büttner, Kirsten Cremer, Johanna Christina Czeschik, ... › de-novo...
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor...
eprints.soton.ac.uk
von JS Witteveen · · Zitiert von: 64 — Author: Kirsten Cremer. Author: Alexander M. Zink. Author: Hartmut Engels. Author: Sonja A. De Munnik. Author: Jasper E. Visser. Author: Han G. Brunner. › ...
De Novo Mutations in CHAMP1 Cause Intellectual ...Europe PMC
europepmc.org
von M Hempel · · Zitiert von: 84 — ... Kirsten Cremer. 2Institute of Human Genetics, University of Bonn, Bonn, Germany. Find articles by Kirsten Cremer. Charlotte W. Ockeloen. 3Department of ...
De novo mutations in beta-catenin (CTNNB1) appear to be ...Maastricht University
cris.maastrichtuniversity.nl
von A Kuechler · · Zitiert von: 120 — van den Boogaard, Nuria Bramswig, Christian Buettner, Kirsten Cremer, Johanna Christina Czeschik, Hartmut Engels, Koen van Gassen, Elisabeth Graf, Mieke van ...
MACS syndrome: A combined collagen and elastin disorder ...
mayoclinic.pure.elsevier.com
von B Albrecht · · Zitiert von: 14 — Beate Albrecht, Arjan P. De Brouwer, Dirk J. Lefeber, Kirsten Cremer, Ingrid Hausser, Nick Rossen, Saskia B. Wortmann, Ron A. Wevers, ... › ...
New insights into the clinical and molecular HAL-IRD
hal.ird.fr
von A Begemann · · Zitiert von: 5 — Theresa Brunet Maryline Carneiro Kirsten Cremer Robert Day Anne-Sophie Denommé-Pichon 1, 2 Dave Dyment Hartmut Engels Rachel Fisher Elaine Goh M. › UP-SANTE
PEDIA: prioritization of exome data by image analysis —...
portal.findresearcher.sdu.dk
von TC Hsieh · · Zitiert von: 38 — ... Claudia Ciaccio, Marie Coutelier, Kirsten Cremer, Magdalena Danyel, Svenja Daschkey, Hilda David Eden, Koenraad Devriendt, Sandra Wilson, Sofia Douzgou › ...
Monogenic variants in dystonia: an exome-wide ...Vrije Universiteit Brussel
researchportal.vub.be
von M Zech · · Zitiert von: 142 — ... Kirsten Cremer, Thomas Sycha, Fritz Zimprich, Verena Kraus, Christine Makowski, Pedro Gonzalez-Alegre, Tanya M. Bardakjian, Laurie J. Ozelius, Annalisa ...
New Insights Into the Clinical and Molecular Spectrum of ...Digital Commons @ East Tennessee State University
dc.etsu.edu
von A Begemann · · Zitiert von: 33 — Theresa Brunet, Maryline Carneiro, Kirsten Cremer, Robert Day, Anne S. Denommé-Pichon, and Dave A. Dyment. This article is available at ...
Nine newly identified individuals refine the phenotype ...National Institutes of Health (.gov)
pubmed.ncbi.nlm.nih.gov
von IC Windheuser · · Zitiert von: 16 — Kirsten Cremer , Hela Hundertmark , Laura M Yates , Elisabeth Mangold , Sophia Peters , Franziska Degenhardt , Kerstin U Ludwig ...
PEDIA: prioritization of exome data by image analysis.Europe PMC
europepmc.org
von TC Hsieh · · Zitiert von: 78 — ... Kirsten Cremer. 12Department of Human Genetics, University Hospital of Bonn, Bonn, Germany. Find articles by Kirsten Cremer. Magdalena Danyel. 2Charité ...
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