Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Chantal Kerkhofs"'
Autor:
Anthony P. Williams, Martin W. Laass, Paul Fockens, Alexander P.A. Stegmann, Chantal Kerkhofs, Han G. Brunner, William Rae, Rune Østern, Freddy Kokke, Servi J. C. Stevens, Saul N. Faust, Christiane Würfel, Peter Wurm
Publikováno v:
Human Mutation, 41, 1, pp. 196-202
Human Mutation, 41, 196-202
Human Mutation
Human Mutation, 41(1), 196-202. Wiley
Human mutation, 41(1), 196-202. Wiley-Liss Inc.
Human Mutation, 41, 196-202
Human Mutation
Human Mutation, 41(1), 196-202. Wiley
Human mutation, 41(1), 196-202. Wiley-Liss Inc.
Idiopathic intestinal varicosis is a developmental disorder defined by dilated and convoluted submucosal veins in the colon or small bowel. A limited number of families with idiopathic intestinal varices has been reported, but the genetic cause has n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bf6de70afee2601c741c903bde8ab86
http://www.scopus.com/inward/record.url?scp=85073821527&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85073821527&partnerID=8YFLogxK
Autor:
Jayne Y. Hehir-Kwa, Njood Alenezi, Stefan H. Lelieveld, Badr Alsaleem, Arjen R. Mensenkamp, Marcel van Deuren, Christian Gilissen, Mofareh AlZahrani, Murad K. Habazi, Eman AlIdrissi, Mihai G. Netea, Alaa B. Alsaad, Pieter van Paassen, Wendy A. G. van Zelst-Stams, Hadeel A. AlJubab, Maartje van de Vorst, Sarah Hortillosa, Joris A. Veltman, Abdulrahman Al-Hussaini, Stefanie S. V. Henriet, Anja Wagner, Hamza A. AlGhamdi, Fahad AlManjomi, Maaike Vreeburg, Annet Simons, Walid Ballourah, Esther P A H Hoppenreijs, Chantal P. Bleeker-Rovers, Jukka S. Moilanen, M.A. MacKenzie, Dimitra Zafeiropoulou, Abdulrahman A. Andijani, Michiel van der Flier, Peer Arts, Judith Potjewijd, Eissa Faqeih, Koen J. van Aerde, Gijs Th. J. van Well, Frank L. van de Veerdonk, Erica H. Gerkes, Anna Simon, Tomasz Stokowy, Evelien Zonneveld-Huijssoon, Ali Asery, Khurram Lone, Chantal Kerkhofs, Janneke H M Schuurs-Hoeijmakers, Marcel R. Nelen, Riikka Keski-Filppula, Jaap ten Oever, Alexander Hoischen, Elanur Yilmaz
Publikováno v:
Genome Medicine, 11, 1
Genome Medicine
Genome medicine, 11:38. BMC
Genome Medicine, 11:38, 1-15. BioMed Central Ltd
Genome Medicine, 11:38. BioMed Central Ltd.
Genome Medicine, 11
Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
Genome Medicine
Genome medicine, 11:38. BMC
Genome Medicine, 11:38, 1-15. BioMed Central Ltd
Genome Medicine, 11:38. BioMed Central Ltd.
Genome Medicine, 11
Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
Background Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic tes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e04ce74acbb094de4102667590f55cd7
https://hdl.handle.net/2066/204759
https://hdl.handle.net/2066/204759
