Zobrazeno 1 - 2
of 2
pro vyhledávání: '"M T, Greally"'
Autor:
Alina T. Midro, Marjolijn C.J. Jongmans, Emilia K. Bijlsma, L Hoffmann, N S den Hollander, Alan Fryer, Mary D. King, Anita Rauch, Susanne E Boonen, Jill Clayton-Smith, Christiane Zweier, Shane McKee, Maarit Peippo, Sarina G. Kant, M T Greally, Sally Ann Lynch, Valeria Ricotti, E Tarantino, Marja W. Wessels, Heinrich Sticht, S-M Park
Publikováno v:
Journal of Medical Genetics, 45(11), 738-744. BMJ Publishing Group
Journal of Medical Genetics, 45, 11, pp. 738-44
Journal of Medical Genetics, 45, 738-44
Journal of Medical Genetics, 45, 11, pp. 738-44
Journal of Medical Genetics, 45, 738-44
Item does not contain fulltext BACKGROUND: Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of Pitt-Hopkins syndrome (PTHS), an underdiagnosed mental-retardation syndrome charac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4149896a8bd1b9b0383d48fed735a9d
https://pure.eur.nl/en/publications/7f76af69-3e36-4933-a3ba-d36e7090ced6
https://pure.eur.nl/en/publications/7f76af69-3e36-4933-a3ba-d36e7090ced6
Autor:
P H, Byers, M, Duvic, M, Atkinson, M, Robinow, L T, Smith, S M, Krane, M T, Greally, M, Ludman, R, Matalon, S, Pauker, D, Quanbeck, U, Schwarze
Publikováno v:
American journal of medical genetics. 72(1)
Ehlers-Danlos syndrome (EDS) type VII results from defects in the conversion of type I procollagen to collagen as a consequence of mutations in the substrate that alter the protease cleavage site (EDS type VIIA and VIIB) or in the protease itself (ED
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0f7d4a4e8dcce2bf595cda8bc7d19f7c
https://pubmed.ncbi.nlm.nih.gov/9295084
https://pubmed.ncbi.nlm.nih.gov/9295084
