Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Abdullah Alrajoudi"'
Autor:
Jan Maarten Cobben, Nienke E. Verbeek, Markus M. Lerch, Fowzan S. Alkuraya, Manuel Oltra Benavent, Celina Guzman, Nima Rezaei, Abdullah Alrajoudi, Özgür Kirbiyik, Martin Zenker, Charu Deshpande, Carlos A. Venegas-Vega, Prajnya Ranganath, Fouad Ali, Marie-Claude Addor, Erick Richmond, Eva-Lena Stattin, Lynette A. Gillis, Débora Romeo Bertola, David B. Everman, Klaus-Michael Keller, Maja Sukalo, Gesche Düker, Clara D.M. van Karnebeek, Heiko Witt, Zhifeng Liu, Julia Mayerle, Jiad N. Mcheik, Crésio Alves, Bita Bozorgmehr, Stephanie Spranger, Amy Shealy, Ankur Singh, Koumudi Godbole, Ariane Fiedler, Jan Liebelt, Gonul Ogur, Carsten Bergmann
Publikováno v:
HUMAN MUTATION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human mutation, 35(5), 521-531. Wiley-Liss Inc.
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human mutation, 35(5), 521-531. Wiley-Liss Inc.
Bertola, Debora/0000-0002-4701-6777; Rezaei, Nima/0000-0002-3836-1827; Lerch, Markus M./0000-0002-9643-8263; Richmond, Erick/0000-0001-9946-3686; Mayerle, Julia/0000-0002-3666-6459 WOS: 000334658800003 PubMed: 24599544 Johanson-Blizzard syndrome (JBS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67a0afa1a5856c41c1115b1d93d74dc5
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=8918
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=8918
Autor:
Maja Sukalo, Iman Sharafadeen, Nabeel Almashraki, Abdullah Alrajoudi, Mukarram Zainuddin Abdulnabee, Martin Zenker
Publikováno v:
World Journal of Gastroenterology. 17:4247
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to th