Beyond founder and truncting variants in TECPR2-associated disorder

Neuser S, Brechmann B, Heimer G, Brosse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, El Bar-Aluma B, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Tenaiji AA, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, Elghazali G, Herman I, Munoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkur-Aya FS, Abou Jamra R, Ben Zeev B, Ebrahimi-Fakhari D, Popp B (2022)

Publication Type: Conference contribution

Publication year: 2022

Journal

Publisher: SPRINGERNATURE

City/Town: LONDON

Pages Range: 254-255

Conference Proceedings Title: EUROPEAN JOURNAL OF HUMAN GENETICS

Authors with CRIS profile

Involved external institutions

Universität Leipzig Germany (DE) Harvard University United States (USA) (US) Chaim Sheba Medical Center at Tel HaShomer / המרכז הרפואי עש חיים שיבא – תל השומר‎‎ Israel (IL) Universitätsklinikum Heidelberg Germany (DE) Technische Universität München (TUM) Germany (DE) Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt (HMGU) / Helmholtz Munich Germany (DE) Ludwig-Maximilians-Universität (LMU) Germany (DE) Miami Children's Hospital United States (USA) (US) University of Florida United States (USA) (US) King Faisal Specialist Hospital & Research Centre Saudi Arabia (SA) Sheikh Khalifa Medical City United Arab Emirates (AE) University College London (UCL) United Kingdom (GB) Oxford University Hospitals NHS Foundation Trust United Kingdom (GB) University of Oxford United Kingdom (GB) Houston Texas Medical Center United States (USA) (US) Boston Children's Hospital United States (USA) (US) Clínica Alemana Universidad de Desarrollo Chile (CL) Massachusetts General Hospital United States (USA) (US) Aga Khan University Hospital Pakistan (PK) Vanderbilt University United States (USA) (US)

How to cite

APA:

Neuser, S., Brechmann, B., Heimer, G., Brosse, I., Schubert, S., O'Grady, L.,... Popp, B. (2022). Beyond founder and truncting variants in TECPR2-associated disorder. In EUROPEAN JOURNAL OF HUMAN GENETICS (pp. 254-255). LONDON: SPRINGERNATURE.

MLA:

Neuser, Sonja, et al. "Beyond founder and truncting variants in TECPR2-associated disorder." Proceedings of the EUROPEAN JOURNAL OF HUMAN GENETICS LONDON: SPRINGERNATURE, 2022. 254-255.

BibTeX: Download