Zobrazeno 1 - 4
of 4
pro vyhledávání: '"M. J. H. Baars"'
Autor:
Ho Y. Cheung, Yvonne Hilhorst-Hofstee, Eline Overwater, Eelco Dulfer, Geneviève Baujat, Sylvie Odent, Alessandra Maugeri, Dominique Bonneau, Fanny Morice-Picard, Catherine Boileau, A.C. Brehin, Arjan C. Houweling, M. J. H. Baars, Laurent Gouya, Marion Gérard, Bertrand Isidor, Clémence Vanlerberghe, Leonie A. Menke, Yline Capri, Nadine Hanna, Pauline Arnaud, J. Peter van Tintelen, Lauriane Le Gloan, Els Voorhoeve, Luisa Marsili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6764412cf6332c80527f993c9588cd11
https://doi.org/10.1111/cge.13700/v2/response1
https://doi.org/10.1111/cge.13700/v2/response1
Autor:
Alessandra Maugeri, Arjan C. Houweling, Clémence Vanlerberghe, A.C. Brehin, M. J. H. Baars, Nadine Hanna, E Overwater, Laurent Gouya, J. P. van Tintelen, Geneviève Baujat, Els Voorhoeve, Marion Gérard, Luisa Marsili, Pauline Arnaud
Publikováno v:
European Heart Journal. 40
Background Mutations in TGFB3 cause Loeys-Dietz syndrome-5 (LDS5), an autosomal dominantly inherited connective tissue disorder. LDS5 is characterized by aortic aneurysms and dissections associated with systemic features mainly involving the ocular a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0665b0633f0a01838222e187c7dff3ce
https://doi.org/10.1093/eurheartj/ehz746.1087
https://doi.org/10.1093/eurheartj/ehz746.1087
Autor:
Timothy C. Cox, Peter Lunt, Zofia Kijas, Ineke van der Burgt, Claude Moraine, Fiona Haslam McKenzie, M. J. H. Baars, Vera M. Kalscheuer, Peter Meinecke, Laurence Faivre, Jennifer Winter, Joyce So, Bettina Moser, Susann Schweiger, Fred Petrij, Vanessa Suckow, Ben C.J. Hamel, Sylvie Odent, Koen Devriendt, John M. Opitz, Gabriele Gillessen-Kaesbach, Albert Schinzel, Beate Albrecht, Julie McGaughran, J.J. van der Smagt, Helen V. Firth
Publikováno v:
American Journal of Medical Genetics. Part A, 132, 1-7
American Journal of Medical Genetics. Part A, 132A(1), 1-7. Wiley
American Journal of Medical Genetics. Part A, 132, 1, pp. 1-7
American Journal of Medical Genetics Part A, 132A(1), 1-7. Wiley-Liss Inc.
American Journal of Medical Genetics, 132 A(1), 1-7. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 132A(1), 1-7. Wiley
American Journal of Medical Genetics. Part A, 132, 1, pp. 1-7
American Journal of Medical Genetics Part A, 132A(1), 1-7. Wiley-Liss Inc.
American Journal of Medical Genetics, 132 A(1), 1-7. Wiley-Liss Inc.
Contains fulltext : 48815.pdf (Publisher’s version ) (Closed access) Opitz syndrome (OS; MIM 145410 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophagea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::371376c390b4946617e678f7d04d7e26
https://research.rug.nl/en/publications/93243ea0-7cee-4c9c-a12b-6e48435635e0
https://research.rug.nl/en/publications/93243ea0-7cee-4c9c-a12b-6e48435635e0
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 149(2)
Nevoid basal cell carcinoma syndrome (NBCCS, basal cell naevus syndrome, Gorlin syndrome) is an autosomal dominant disorder, caused by mutations in the PTCH gene mapped to chromosome 9q22.3. It is characterised by multiple basal cell carcinomas, kera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::27aef02bd08b2594b14b1c53900bfb06
https://pubmed.ncbi.nlm.nih.gov/15688838
https://pubmed.ncbi.nlm.nih.gov/15688838