a whole-exome sequencing gene-identification studyThe Lancet
www.thelancet.com
... Janine Altmüller, MD, Peter Frommolt, PhD, Birgit Zirn, PhD, Friedrich Ebinger, MD, Prof Hartmut Siemes, MD, Prof Peter Nürnberg, PhD, Prof Knut Brockmann Janine Altmüller, MD, Peter Frommolt, PhD, Birgit Zirn, PhD, Friedrich Ebinger, MD, Prof Hartmut Siemes, MD, Prof Peter Nürnberg, PhD, Prof Knut Brockmann ...
RRZK - UNIVERSITÄT ZU KÖLNRRZK
rrzk.uni-koeln.de
AP — ... Janine Altmüller, Holger Thiele, Peter Nürnberg, Costin Leu, Aarno Palotie, Mark J. Daly, Karl Martin Klein, Rudi Beschorner, Yvonne G ...
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic...
kclpure.kcl.ac.uk
... Stefan Herms ; Janine Altmüller ; Mohammad R Toliat ; Holger Thiele ; Peter Nürnberg ; Christian Wilhelm ; Ulrich Stephani ; Ingo Helbig ; Holger Lerche ; Fritz ...
AbstractAmerican Society of Clinical Oncology (ASCO)
meetings.asco.org
Jan Hauke, Andre Heimbach, Lisa Katharina Richters, Sandra Kroeber, Janine Altmüller, Holger Thiele, Peter Nuernberg, Barbara Wappenschmidt, Guido Neidhardt, ... Jan Hauke, Andre Heimbach, Lisa Katharina Richters, Sandra Kroeber, Janine Altmüller, Holger Thiele, Peter Nuernberg, Barbara Wappenschmidt, Guido Neidhardt, ...
Major changes in the core developmental pathways of ...
arxiv.org
... Krystalynne Morris, Peter Heger, Janine Altmüller, Peter Frommolt, Peter Nürnberg, W. Kelley Thomas, Mark L. Blaxter, Einhard Schierenberg.
STIL mutation causes autosomal recessive microcephalic lobar...
www.proquest.com
Janine Altmüller · Katrin Friedrich · Gotthold Barbi · Peter Nürnberg ·. Christian Kubisch · William B. Dobyns · Guntram Borck. Received: 31 July ...
Genomics authors/titles Mar 2013arXiv
arxiv.org
... Janine Altmüller, Peter Frommolt, Peter Nürnberg, W. Kelley Thomas, Mark L. Blaxter, Einhard Schierenberg. Comments: 34 pages (raw), 5 figures,
De novo FUS mutations are the most frequent genetic ...ScienceDirect.com
www.sciencedirect.com
von A Hübers · · Zitiert von: 84 — , Josef Högel b , Holger Thiele d , Janine Altmüller d e , Peter Nürnberg d f g , Jochen H. Weishaupt a , Christian Kubisch b c , Albert C. Ludolph ... von A Hübers · · Zitiert von: 84 — , Josef Högel b , Holger Thiele d , Janine Altmüller d e , Peter Nürnberg d f g , Jochen H. Weishaupt a , Christian Kubisch b c , Albert C. Ludolph ...
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic...
www.ikmb.uni-kiel.de
... Ursula Gruber-Sedlmayr, Julia Geldner, Robert J Harvey, Per Hoffmann, Stefan Herms, Janine Altmüller, Mohammad R Toliat, Holger Thiele, Peter Nürnberg, ...
Prevalence of cancer predisposition germline variants in ...OPUS Würzburg
opus.bibliothek.uni-wuerzburg.de
von M Rolfes · · Zitiert von: 9 — ... Janine Altmüller, Peter Nürnberg, Kerstin Rhiem, Christoph Engel, Barbara Wappenschmidt, Rita K. Schmutzler, Eric Hahnen, Jan Hauke. Male ...
Wikipedia: Bartter-Syndrom – Wikipedia
Das Bartter-Syndrom ist eine äußerst seltene vererbte Krankheit des aufsteigenden Astes der Malte P. Bartram, Carlos Dombret, Janine Altmüller, Peter Nürnberg, Thomas Benzing, Elena Levtchenko, Hannsjörg W. Seyberth, Günter Klaus, ...
Mutations in PLK4, encoding a master regulator of centriole...
www.nature.com
Andrew Jackson, Peter Nürnberg and colleagues identify mutations in PLK4 and TUBGCP6 in individuals with microcephaly, primordial dwarfism, retinopathy and...
Alle Infos zum Namen "Janine Altmüller"
Apoptotic cleavage of DNA in human lymphocyte ...OUCI
ouci.dntb.gov.ua
Frenkel, Janine Altmüller, Peter Nürnberg, Edward N. Trifonov. List of references. Catasti P., Genetica, № 106, с. 15 https://doi.org A: Frenkel, Janine Altmüller, Peter Nürnberg, Edward N. Trifonov. List of references. Catasti P., Genetica, № 106, с. 15 https://doi.org A:
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase ...University of Miami - Research Portal
scholarship.miami.edu
Janine Altmüller, Peter Nürnberg, Jürgen Ellwanger, … Show details for 22 authors. American journal of human genetics, Vol.103(5), pp DOI ... Janine Altmüller, Peter Nürnberg, Jürgen Ellwanger, … Show details for 22 authors. American journal of human genetics, Vol.103(5), pp DOI ...
CDK6 associates with the centrosome during mitosis and is ...The Aga Khan University
scholars.aku.edu
von MS Hussain · · Zitiert von: 148 — Malik, Ilyas Ahmad, Janine Altmüller, Peter Frommolt, Holger Thiele, Wolfgang Höhne, Gökhan Yigit, Bernd Wollnik, Bernd A. Neubauer, Peter NürnbergAngelika ... von MS Hussain · · Zitiert von: 148 — Malik, Ilyas Ahmad, Janine Altmüller, Peter Frommolt, Holger Thiele, Wolfgang Höhne, Gökhan Yigit, Bernd Wollnik, Bernd A. Neubauer, Peter NürnbergAngelika ...
EIF2γ Mutation that Disrupts eIF2 Complex Integrity Links ...אוניברסיטת תל אביב
cris.tau.ac.il
... Janine Altmüller, Peter Frommolt, Kay Hofmann, Osnat Konen, Peter Nürnberg, Arnold Munnich, Charles E. Schwartz, Doron GothelfLaurence Colleaux, Thomas E Janine Altmüller, Peter Frommolt, Kay Hofmann, Osnat Konen, Peter Nürnberg, Arnold Munnich, Charles E. Schwartz, Doron GothelfLaurence Colleaux, Thomas E ...
Homozygous loss-of-function variants in FILIP1 cause ...Research Explorer The University of Manchester
research.manchester.ac.uk
von F Schnabel · — ... Janine Altmüller, Peter Nürnberg, Siddharth Banka, Katta M Girisha, Yun Li, Bernd Wollnik, Gökhan Yigit. Division of Evolution, Infection and ... von F Schnabel · — ... Janine Altmüller, Peter Nürnberg, Siddharth Banka, Katta M Girisha, Yun Li, Bernd Wollnik, Gökhan Yigit. Division of Evolution, Infection and ...
PubMed Channelpedia - EPFLChannelpedia
channelpedia.epfl.ch
... Janine Altmüller, Holger Thiele, Andrea Wetzel, Peter Nürnberg, Vincent Timmerman, Peter De Jonghe, Robert Blum, Hans-Georg Schaible, Joachim Weis, Stefan H Janine Altmüller, Holger Thiele, Andrea Wetzel, Peter Nürnberg, Vincent Timmerman, Peter De Jonghe, Robert Blum, Hans-Georg Schaible, Joachim Weis, Stefan H ...
TRAIP promotes DNA damage response during genome ...University of Birmingham
research.birmingham.ac.uk
von ME Harley · · Zitiert von: 91 — ... Janine Altmüller, Holger Thiele, Lynn GreenhalghLuciana Chessa, Mohamad Maghnie, Mahmoud Salim, Michael B Bober, Peter Nürnberg, Stephen P Jackson, Matthew ... von ME Harley · · Zitiert von: 91 — ... Janine Altmüller, Holger Thiele, Lynn GreenhalghLuciana Chessa, Mohamad Maghnie, Mahmoud Salim, Michael B Bober, Peter Nürnberg, Stephen P Jackson, Matthew ...
Two distinct phenotypes in the same family are caused IOVSARVO Journals
iovs.arvojournals.org
von M Owczarek-Lipska · — Marta Owczarek-Lipska, Charlotte Reiff, Georg Spital, Carsten Roeger, Hebke Hinz, Christoph Jüschke, Holger Thiele, Janine Altmüller, Peter Nürnberg, Romain Da ... von M Owczarek-Lipska · — Marta Owczarek-Lipska, Charlotte Reiff, Georg Spital, Carsten Roeger, Hebke Hinz, Christoph Jüschke, Holger Thiele, Janine Altmüller, Peter Nürnberg, Romain Da ...
Researcher: Janine Altmüller in Publications - Dimensions
app.dimensions.ai
Silke Pauli, Janine Altmüller, Simone Schröder, Andreas Ohlenbusch, Steffi Dreha-Kulaczewski, Carsten Bergmann, Peter Nürnberg, Holger Thiele, Yun Li, ...
Altmetric – De novo mutations in SMCHD1 cause Bosma arhinia...
www.altmetric.com
... Ruth McGowan, Alex C Magee, Janine Altmüller, Camille Dion, Holger Thiele, Alexandra D Gurzau, Peter Nürnberg, Dieter Meschede, Wolfgang Mühlbauer, ...
Confirmation of CAGSSS syndrome as a distinct entity in a Danish...
snucm.elsevierpure.com
Shahida Moosa, Annette Haagerup, Pernille Axel Gregersen, Karin Kastberg Petersen, Janine Altmüller, Holger Thiele, Peter Nürnberg, ...
Article Metrics and Usage Statistics CenterGenome Res
genome.cshlp.org
Janine Altmüller,; Alexandre Reymond,; Peter Nürnberg,; Giuseppe Merla,; Bruno Dallapiccola,; Nicholas Katsanis,; Patrick Cramer,; and Christian Kubisch. Genome ...
Create a SciFeed alert for new publicationsMDPI
www.mdpi.com
Janine Altmüller. Peter Nürnberg. Kerstin Rhiem. Christoph Engel. Barbara Wappenschmidt. Rita K. Schmutzler. Eric Hahnen. Jan Hauke. With settings. Email: Freq ...
Exome sequencing and CRISPR/Cas genome editing identify mutations of...
fis-uke.de
... Lars Wittler and Rüstem Yilmaz and Janine Altmüller and Holger Thiele and {van Bokhoven}, Hans and Schwartz, {Charles E} and Peter Nürnberg and Bowie, ...
Enrichment of target sequences for next-generation ...National Institutes of Health (NIH) (.gov)
pubmed.ncbi.nlm.nih.gov
von J Altmüller · · Zitiert von: 44 — Janine Altmüller, Birgit S Budde, Peter Nürnberg. PMID: ; DOI: hsz Abstract. Abstract Targeted re-sequencing such as gene panel ...
JCI - Mutations in γ-secretase subunit–encoding PSENEN underlie...
www.jci.org
... Susanne A. Pulimood, Janine Altmüller, Peter Nürnberg, Didier Lacombe, Uwe Hillen, Jörg Wenzel, Jorge Frank, Benjamin Odermatt, Regina ...
Kamel Laghmani - Site de lgppr !
lgppr.jimdofree.com
... Malte P. Bartram, Carlos Dombret, Janine Altmüller, Peter Nürnberg, Thomas Benzing, Elena Levtchenko, Hannsjörg W. Seyberth, Günter Klaus, Gökhan Yigit, ...
Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive...
pure.hud.ac.uk
... Dietmar Müller, Kerstin Becker, Ramona Casper, Gudrun Nürnberg, Janine Altmüller, Peter Nürnberg, Heiko Traupe, Anthony H Futerman, Hans C Hennies.
Papers with the keyword Mendeliome | Read by QxMD
read.qxmd.com
Salem Alawbathani, Amit Kawalia, Mert Karakaya, Janine Altmüller, Peter Nürnberg, Sebahattin Cirak. Rare diseases are often misdiagnosed or receive a ...
Tumor suppression in basal keratinocytes via dual non-cell-autonomous...
elifesciences.org
Julia Hatzold,; Filippo Beleggia,; Hannah Herzig,; Janine Altmüller,; Peter Nürnberg,; Wilhelm Bloch,; Bernd Wollnik,; Matthias Hammerschmidt Is a ...
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