102 Infos zu Sandra Doelken

15 Aktuelle Nachrichten

Seltene Erkrankungen sind in ihrer Mehrzahl genetisch bedingt, aber trotz großer Fortschritte in der Genomforschung bleibt die Ursache bei den meisten unklar. Die Aufdeckung des Defektes ist jedoch Voraussetzung für eine definitive Diagnose und die Entwic

Taroh Kinoshita, Yoshiko Murakami, Sebastian Bauer, Melanie Isau, Axel Fischer, Andreas Dahl, Martin Kerick, Jochen Hecht, Sebastian Köhler, Marten Jäger, Johannes Grünhagen, Birgit Jonske de Condor, Sandra Doelken, Han G. Brunner, ...

... Marten Jäger, Johannes Grünhagen, Birgit Jonske de Condor, Sandra Doelken, Han G. Brunner, Peter Meinecke, Eberhard Passarge, Miles D. Thompson, ...

· ... Jochen Hecht, Peter Krawitz, Luitgard Graul-Neumann, Sandra Doelken, Nadja Ehmke, Malte Spielmann, Nancy Christine Øien, Michal R. …

3 Profile in Sozialen Netzwerken

Periostitis - at the moment

:book::microscope::coffee: BioJava is an open-source project dedicated to providing a Java library for processing biological data. - biojava/hp.obo at master ·...

— saved-by: Peter Robinson, Sebastian Koehler, Sandra Doelken, Chris Mungall, Melissa Haendel, Nicole Vasilevsky, Monarch Initiative, et al. › master › HPO

1 Persönliche Webseiten

... at the Charité University Hospital in Berlin, Germany by Peter N Robinson and Sebastian Köhler with support from Sandra Doelken and Sebastian Bauer. › app › about

2 Infos zur Ausbildung

Tudor Groza, Sebastian Köhler, Sandra Doelken, Nigel Collier, Anika Oellrich, Damian Smedley, Francisco M Couto, Gareth Baynam, Andreas Zankl, ... › portal

author = "Tudor Groza and Sebastian K{\"o}hler and Sandra Doelken and Nigel Collier and Anika Oellrich and Damian Smedley and Couto, {Francisco M} and ...

4 Projekte

Sandra Doelken. User Activity. Modified ticket #481 on Open Biomedical Ontologies. Term requests. 3 months ago; Created ticket #481 on ...

David Osumi-Sutherland, djs93, Developer. David J. States, djstates, Developer. Sandra Doelken, doelkens, Developer. Damian Smedley, dsmedley, Developer.

Details: +/ HP: ! All ++is_a HP: ! Organ abnormality [DEF: "An ... Sandra Doelken. Category: None. Group: None. Visibility: Public

Details: The is_a definition (see below) seems wrong, but I am no medical expert ... Sandra Doelken. Category: None. Group: None. …

3 Bücher zum Namen

Gao Guo, · Petra Gehle, · Sandra Doelken, · José Luis Martin-Ventura, · Yskert von Kodolitsch, · Roland Hetzer, · Peter N Robinson. › article

Paperity: the 1st multidisciplinary aggregator of Open Access journals & papers. Free fulltext PDF articles from hundreds of disciplines, all in one place

Marfan-Zentrum des DHZB und der Charité, Berlin, Germany. Sandra Doelken, Peter N. Robinson Max-Planck-Institute for Molecular Genetics, Berlin, Germany.

13 Dokumente

Expanding the Clinical Phenotype Space with Semantics and Model Systems Melissa Haendel March 14th, Updates in Clinical Genetics

Charite – Sebastian Kohler – Sandra Doelken – Sebatian Bauer – Peter Robinson • U of Oregon – Barbara Ruef – Monte Westerfield • OHSU – Carlo Torniai ... › mappi...

Presented at Harvard CBMI to the Undiagnosed Disease Network

... Luisa Mackenroth, Marten Jäger, Jochen Hecht, Peter Krawitz, Luitgard Graul-Neumann, Sandra Doelken, Nadja Ehmke, Malte Spielmann, Nancy Christine Øien, ... › medizin › krankhei

5 Wissenschaftliche Publikationen

List of computer science publications by Sandra C. Doelken

The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined ...

... Harry Hochheiser Sanger Anika Oehlrich Jules Jacobson Damian Smedley Charit Sebastian Kohler Sandra Doelken Sebastian Bauer Peter Robinson Toronto Marta ... › Science

... Luisa Mackenroth, Marten Jäger, Jochen Hecht, Peter Krawitz, Luitgard Graul-Neumann, Sandra Doelken, Nadja Ehmke, Malte Spielmann, Nancy Christine Oien, ... › forschung › klinische_geno...

6 Allgemeine Veröffentlichungen

Double heterozygosity for disease-causing BRCA1 and BRCA2 mutations is a very rare condition in most populations. Here we describe genetic and clinical dat

Αικατερίνη Δημοπούλου, Sandra Doelken, Stefan Mundlos, Μαρία Φωτουλάκη. Παχυσαρκία σε ασθενείς με κυστική ίνωση. Φωτουλάκη, Π. Σαββοπούλου, Β. Σίδη, ... › ...

Search Results: of matches for " Sandra Doelken " All listed articles are free for downloading (OA Articles) ...

Background A growing number of non-coding regulatory mutations are being identified in congenital disease. Very recently also some exons of protein coding...

49 Webfunde aus dem Netz

Peter Robinson, Sebastian Koehler, Sandra Doelken, Chris Mungall, Melissa Haendel, Nicole Vasilevsky, Monarch Initiative, et al. Please see ...

Tudor Groza, Sebastian Köhler, Sandra Doelken, Nigel Collier, Anika Oellrich, Damian Smedley, Francisco M Couto, Gareth Baynam, Andreas Zankl, Peter N ...

PhenIX can identify genetic diseases quickly and reliably based on analyses of genes and symptoms

· All genes in one go; Research News. Researchers ... Marten Jäger, Johannes Grünhagen, Birgit Jonske de Condor, Sandra Doelken, Han G. Brunner, …

Tudor Groza, S. Kohler, Sandra Doelken, Nigel Collier, Anika Oellrich, Damian Smedley, Francisco M. Couto, Gareth Baynam, Andreas Zankl, Peter N. Robinson, ... › ...

(Cys53Arg), -, pathogenic, g T>C, g T>C, -, -, BMPR1B_ , -, PubMed: Graul-Neumann 2013, -, -, Germline, -, -, -, 0, -, Sandra Doelken. › shared

täglich recherchierte medizinische News

... Sebastian Köhler, Marten Jäger, Johannes Grünhagen, Birgit Jonske de Condor, Sandra Doelken, Han G. Brunner, Peter Meinecke, Eberhard Passarge, ... › Blog

Genyca, laboratorio de genética y formación especializada. La genética a su servicio.

(xsd:float). ontology [obo_vocabulary:ontology]. hp. saved by [obo_vocabulary:saved-by]. Peter Robinson, Sebastian Koehler, Sandra Doelken, Chris ...

... PMC ID: PMC ; Authors: Gao Guo Petra Gehle Sandra Doelken José Luis Martin-Ventura Yskert von Kodolitsch Roland Hetzer Peter N. Robinson. › ENSMU...

Sandra Doelken (Author) ... Tudor Groza, Sebastian Kohler, Sandra Doelken, Nigel Collier, Anika Oellrich, Damian Smedley, Francisco M. Couto, Gareth Baynam, ... › ...

— Gao Guo · Petra Gehle · Sandra Doelken · José Luis Martin-Ventura · Yskert von Kodolitsch · Roland Hetzer · Peter N. Robinson. › articles ›

Find the training resources you need for all your activities. Studyres contains millions of educational documents, questions and answers, notes about the...

Dr Φωτουλάκη Μαρία - Παιδογαστρεντερολόγος Θεσσαλονίκη - Αναπληρώτρια Καθηγήτρια Παιδικής Γαστρεντερολογίας Α.Π.Θ.Ανακοινώσεις σε ελληνικά επιστημονικά συνέδρια

Gao Guo, Petra Gehle, Sandra Doelken, José Luis Martin-Ventura, Yskert von Kodolitsch, Roland Hetzer, Peter N. Robinson. published 27 May › browse

... Luisa Mackenroth, Marten Jäger, Jochen Hecht, Peter Krawitz, Luitgard Graul-Neumann, Sandra Doelken, Nadja Ehmke, Malte Spielmann, Nancy Christine Øien, ... › tag › charite › page

posted on , 09:57 by Gao Guo Petra Gehle Sandra Doelken José Luis Martin-Ventura Yskert von Kodolitsch Roland Hetzer Peter N. Robinson.

von S Köhler · · Zitiert von: 476 — Sebastian Köhler , Marcel H Schulz, Peter Krawitz, Sebastian Bauer, Sandra Dölken, Claus E Ott, Christine Mundlos, Denise Horn, Stefan Mundlos, ... von PM Krawitz · · Zitiert von: 361 — ... Martin Kerick, Jochen Hecht, Sebastian Köhler, Marten Jäger, Johannes Grünhagen, Birgit Jonske de Condor, Sandra Doelken, Han G Brunner, Peter Meinecke, ... › ...

Chris Mungall Courtney Hum Joie Davis Mark Engelstad Melissa Haendel Nicole Vasilevsky Sandra Doelken Peter N Robinson Sebastian Koehler The Human ...