J
Joerg Schmidtke
Researcher at Hannover Medical School
Publications - 78
Citations - 1918
Joerg Schmidtke is an academic researcher from Hannover Medical School. The author has contributed to research in topics: Gene & DNA. The author has an hindex of 24, co-authored 77 publications receiving 1791 citations. Previous affiliations of Joerg Schmidtke include Hochschule Hannover.
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Journal ArticleDOI
Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III
H.-J. Lüdecke,J. Schaper,Peter Meinecke,P. Momeni,Stephanie Groß,D. von Holtum,H. Hirche,Marc Abramowicz,Beate Albrecht,C. Apacik,H.-J. Christen,Uwe Claussen,Koenraad Devriendt,E. Fastnacht,A. Forderer,Ursula Friedrich,Timothy H.J. Goodship,M. Greiwe,Henning Hamm,Raoul C.M. Hennekam,Georg Klaus Hinkel,Maria Hoeltzenbein,Hülya Kayserili,Frank Majewski,Michèle Mathieu,R. McLeod,Alina T. Midro,Ute Moog,Toshiro Nagai,Norio Niikawa,Karen Helene Ørstavik,E. Plöchl,Cornelia S. Seitz,Joerg Schmidtke,Lisbeth Tranebjærg,Masato Tsukahara,Bärbel Wittwer,Bernhard Zabel,Gabriele Gillessen-Kaesbach,B. Horsthemke +39 more
TL;DR: The data indicate that TRPS III is at the severe end of theTRPS spectrum and that it is most often caused by a specific class of mutations in the TRPS1 gene.
Journal ArticleDOI
Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms
Robert Williamson,Anne M. Bowcock,Kenneth K. Kidd,Peter L. Pearson,Joerg Schmidtke,P. Ceverha,M. Chipperfield,David Neil Cooper,C. Coutelle,Judi E. Hewitt,Katherine W. Klinger,K. Langley,Jacques S. Beckmann,M. Tolley,B. Maidak,D. Hewett,C. Linch,G. Maslen +17 more
Journal ArticleDOI
Networking for rare diseases: a necessity for Europe.
Ségolène Aymé,Joerg Schmidtke +1 more
TL;DR: In the recent past, several initiatives at EU and Member States levels have been taken and proved efficient in developing suitable solutions which are now having a positive impact on the quality of life of patients.
Journal ArticleDOI
What is ideal genetic counselling? A survey of current international guidelines
Elina Rantanen,Marja Hietala,Ulf Kristoffersson,Irmgard Nippert,Joerg Schmidtke,Jorge Sequeiros,Helena Kääriäinen +6 more
TL;DR: The ideal of genetic counselling is rather consistent in the guidelines, but there are some contradictions between the requirements of objective information-giving and adapting counselling to counsellee's circumstances.
Journal ArticleDOI
Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities Background Document to the ESHG recommendations on genetic testing and common disorders
Frauke Becker,Carla G. van El,Dolores Ibarreta,Eleni Zika,Stuart Hogarth,Pascal Borry,Pascal Borry,Anne Cambon-Thomsen,Jean Jacques Cassiman,Gerry Evers-Kiebooms,Shirley Hodgson,A. Cecile J.W. Janssens,Helena Kääriäinen,Michael Krawczak,Ulf Kristoffersson,Jan Lubinski,Christine Patch,Victor B. Penchaszadeh,Andy Read,Wolf Rogowski,Jorge Sequeiros,Lisbeth Tranebjærg,Irene M. van Langen,Helen Wallace,Ron Zimmern,Joerg Schmidtke,Martina C. Cornel +26 more
TL;DR: Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities as mentioned in this paper, where the authors assess relevance, possibilities, relevance, and relevance of common disorders.