Updated insight into the mutational and phenotypic spectrum of MED13L-related intellectual disability

Asadollahi R, Boonsawat P, Popp B, Torti E, Bader I, Vitobello A, Moutton S, Pinson L, Lambert L, Thuresson AC, Sobol M, Zander CS, Platzer K, Strehlow V, Hornemann F, Zacher P, Mau-Them FT, Bruel AL, Hajianpour MJ, Kovacs-Nagy R, Lay-Son G, Amlie-Wolf L, Kaplan J, Chassevent A, Smith-Hicks C, Slavotinek A, Kukolich MK, Nugent K, Roeder E, Zarate YA, Toshiyuki Y, Jackel-Cram C, Maystadt I, Mehta SG, Briggs TA, Chandler K, Van Haeringen A, Kraus C, Zweier C, Reis A, Rauch A (2020)

Publication Type: Conference contribution

Publication year: 2020

Journal

Publisher: SPRINGERNATURE

City/Town: LONDON

Pages Range: 350-351

Conference Proceedings Title: EUROPEAN JOURNAL OF HUMAN GENETICS

Authors with CRIS profile

Involved external institutions

University of Zurich / Universität Zürich (UZH) Switzerland (CH) Université Bourgogne Franche-Comté France (FR) Uppsala University Sweden (SE) Universität Leipzig Germany (DE) University of Manchester United Kingdom (GB) Houston Texas Medical Center United States (USA) (US) Semmelweis University / Semmelweis Egyetem Hungary (HU) Tokyo Women's Medical University Japan (JP) Nemours/Alfred I. duPont Hospital for Children United States (USA) (US) Institut de Pathologie et de Génétique a.s.b.l. Belgium (BE) Pontificia Universidad Católica de Chile Chile (CL) University of California San Francisco (UCSF) United States (USA) (US) Cambridge University Hospital United Kingdom (GB) Cook Children's Health Care System United States (USA) (US) Royal University Hospital Canada (CA) Kleinwachau - Sächsisches Epilepsiezentrum Radeberg gGmbH Germany (DE) Universitätsklinikum Leipzig Germany (DE) GeneDX United States (USA) (US) Paracelsus Medizinische Privatuniversität Austria (AT) Kennedy Krieger Institute United States (USA) (US) Leiden University Netherlands (NL) East Tennessee State University United States (USA) (US) Johns Hopkins Hospital United States (USA) (US) University of Arkansas United States (USA) (US)

How to cite

APA:

Asadollahi, R., Boonsawat, P., Popp, B., Torti, E., Bader, I., Vitobello, A.,... Rauch, A. (2020). Updated insight into the mutational and phenotypic spectrum of MED13L-related intellectual disability. In EUROPEAN JOURNAL OF HUMAN GENETICS (pp. 350-351). LONDON: SPRINGERNATURE.

MLA:

Asadollahi, R., et al. "Updated insight into the mutational and phenotypic spectrum of MED13L-related intellectual disability." Proceedings of the EUROPEAN JOURNAL OF HUMAN GENETICS LONDON: SPRINGERNATURE, 2020. 350-351.

BibTeX: Download