Kirsten CREMER | University of Bonn, Bonn | Uni Bonn | Institute...
www.researchgate.net
Kirsten Cremer Hartmut Engels Both point mutations and deletions of the MYT1L gene as well as microdeletions of chromosome band 2p25.3 including MYT1L are associated with intellectual disability ...
Liset Falcon Rodriguez - Piri Keşif Aracı
kesifaraci.com
... Marjon A. van Slegtenhorst , Kirsten Cremer , Jessica Becker , Hartmut Engels , Stefan Aretz , Jennifer J. MacKenzie , Eva Brilstra , Koen L. I. van ... › ...
Variants in FGF10 cause isolated neonatal lung ...Authorea
www.authorea.com
von K Schuetz · — Sophia Peters,; Matthias Griese ,; Christina Katharina Rapp,; Hartmut Engels,; Kirsten Cremer,; Anke Katharina Bergmann,; Gunnar Schmidt,; Bernd ...
Deficiency of ECHS 1 causes mitochondrial encephalopathy with cardiac...
www.deepdyve.com
Anja Kolb-Kokocinski , Richard Durbin , Oswald Hasselmann , Kirsten Cremer ,. Beate Albrecht , Dagmar Wieczorek , Hartmut Engels.
De novo mutations in beta - catenin (CTNNB1) appear to be a frequent...
www.deepdyve.com
Hans van Bokhoven · Marie Jose H. van den Boogaard · Nuria Bramswig · Christian Büttner · Kirsten Cremer ·. Johanna Christina Czeschik · Hartmut Engels ...
Microdeletions in 9q33.3-q in five ScienceOpen
www.scienceopen.com
— Author(s): Julia K. Ehret , Hartmut Engels , Kirsten Cremer , Jessica Becker , Johannes P. Zimmermann , Eva Wohlleber , Ute Grasshoff ... › do...
A syndromic neurodevelopmental disorder caused by rare ...ScienceDirect
www.sciencedirect.com
von MS Paul · — , Matias Wagner , Hartmut Engels 16 , Kirsten Cremer 15 , Elisabeth Mangold 15 , Sophia Peters 15 … Hsiao-Tuan Chao
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 ...
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia,...
core.ac.uk
... Corinne Gemperle-Britschgi, Kirsten Cremer, Hartmut Engels, David Meili, Irene Keller, Rémy Bruggmann, Tim M. Strom, Thomas Meitinger, James C. Mullikin ...
Microdeletions in 9q33.3-q in five patients with intellectual...
link.springer.com
Julia K. Ehret, Hartmut Engels, Kirsten Cremer, Jessica Becker, Johannes P. Zimmermann, Eva Wohlleber, Elisabeth Mangold, Stefanie Schön, ...
Deficiency of ECHS1 causes mitochondrial ...CORE
core.ac.uk
Kirsten Cremer · Beate Albrecht · Dagmar Wieczorek · Hartmut Engels · Dagmar Karen Hahn · Alexander M Zink · Charlotte L Alston · Robert W Taylor · Richard J ...
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 ...
New insights into the clinical and molecular spectrum of the novel ...mftlocalauthors.wordpress.com › › new...
mftlocalauthors.wordpress.com
· ... Kirsten Cremer, Robert Day, Anne-Sophie Denommé-Pichon, Dave A Dyment, Hartmut Engels, Rachel Fisher, Elaine S Goh, M J Hajianpour, ...
New insights into the clinical and molecular spectrum of the novel...
www.nature.com
· Jessica Becker PhD, Kirsten Cremer MD & Hartmut Engels PhD. Institute of Human Genetics, Universitätsklinikum Hamburg-Eppendorf, Hamburg, ...
Alle Infos zum Namen "Kirsten Cremer"
Nine newly identified individuals refine the phenotype associated …
www.bing.com
WebIsabelle C. Windheuser, Jessica Becker, and Kirsten Cremer contributed equally as first authors. Roberto Colombo, Maja Hempel, and Hartmut Engels contributed equally as …
Auftrag zur molekulargenetischen Diagnostik - PDF Kostenfreier...
docplayer.org
Kirsten Cremer Dr. rer. nat. S. Pasternack-Ziach Univ.-Prof. Dr. med. Markus Nöthen PD Dr. med. E. Mangold Dr. med. Isabel Spier Dr. rer. nat. Hartmut Engels ...
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 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 ...
Download Figures (PPT) - Genetics in Medicinegimjournal.org
www.gimjournal.org
... Kirsten Cremer, MD, Robert Day, PhD, Anne-Sophie Denommé-Pichon, MD, Dave A. Dyment, MD, Hartmut Engels, PhD, Rachel Fisher, MS, CGC, Elaine S. Goh, MD ...
Novel SIN3A mutation identified in a Japanese patient with ...read.qxmd.com › read
read.qxmd.com
... Jolanda Schieving, Christian Gilissen, Nicola Foulds, Patrick Rump, Tim Strom, Kirsten Cremer, Alexander M Zink, Hartmut Engels, Sonja A de Munnik, Jasper ...
Microdeletions in 9q33.3-q in five patients with CyberLeninkacyberleninka.org › article
cyberleninka.org
... in Clinical medicine , author of scholarly article — Julia K. Ehret, Hartmut Engels, Kirsten Cremer, Jessica Becker, Johannes P. Zimmermann, et al.
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
Loss-of-function variants in HIVEP2 are a cause of intellectual...
jhu.pure.elsevier.com
Siddharth Srivastava, Hartmut Engels, Ina Schanze, Kirsten Cremer, Thomas Wieland, Moritz Menzel, Max Schubach, Saskia Biskup, Martina Krei, Sabine ...
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac...
read.qxmd.com
... Anja Kolb-Kokocinski, Richard Durbin, Oswald Hasselmann, Kirsten Cremer, Beate Albrecht, Dagmar Wieczorek, Hartmut Engels, Dagmar Hahn, Alexander M ...
Holger Prokisch - Publications List
publicationslist.org
... Corinne Gemperle-Britschgi, Kirsten Cremer, Hartmut Engels, David Meili, Irene Keller, Rémy Bruggmann, Tim M Strom, Thomas Meitinger, James C Mullikin, ...
Johannes A Mayr - Publications List
publicationslist.org
... Anja Kolb-Kokocinski, Richard Durbin, Oswald Hasselmann, Kirsten Cremer, Beate Albrecht, Dagmar Wieczorek, Hartmut Engels, Dagmar Hahn, Alexander M ...
GestaltMatcher: Overcoming the limits of rare Research Squarewww.researchsquare.com › article
www.researchsquare.com
· ... Sophia Peters, Hartmut Engels, Elisabeth Mangold, Martina Kreiß, Kirsten Cremer, Claudia Perne, Regina Betz, Kathrin Grundmann-Hauser, ...
Open field.Bio-protocol
bio-protocol.org
KC Kirsten Cremer. JB Jessica Becker. HE Hartmut Engels. SA Stefan Aretz. JM Jennifer J. MacKenzie. EB Eva Brilstra. KG Koen L. I. van Gassen. RJ Richard H. van ...
Loss-of-function variants in HIVEP2 are a cause of intellectual ...jhu.pure.elsevier.com › publications › loss-of-functi...
jhu.pure.elsevier.com
· Siddharth Srivastava, Hartmut Engels, Ina Schanze, Kirsten Cremer, Thomas Wieland, Moritz Menzel, Max Schubach, Saskia Biskup, Martina Krei, ...
Microdeletions in 9q33.3-q in five patients with intellectual...
www.infona.pl
Julia K. Ehret, Hartmut Engels, Kirsten Cremer, Jessica Becker, Johannes P. Zimmermann, Eva Wohlleber, Ute Grasshoff, Eva Rossier, Michael Bonin, Elisabeth ...
HUMAN MOLECULAR GENETICSOxford Academic
academic.oup.com
— ... Kirsten Cremer , Hartmut Engels ,. Sophia O. Peters , Maha S. Zaki , Ruizhi Duan , Changlian Zhu , Yiran Xu , Chao Gao , Tania Sepulveda ...
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