Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Juan M. Tellez Garcia"'
Autor:
Ferdows Atiq, Johan Boender, Waander L. van Heerde, Juan M. Tellez Garcia, Selene C. Schoormans, Sandy Krouwel, Marjon H. Cnossen, Britta A. P. Laros-van Gorkom, Joke de Meris, Karin Fijnvandraat, Johanna G. van der Bom, Karina Meijer, Karin P. M. van Galen, Jeroen Eikenboom, Frank W. G. Leebeek, for the WiN Study Group
Publikováno v:
HemaSphere, Vol 6, Iss 6, p e718 (2022)
Genotyping is not routinely performed at diagnosis of von Willebrand disease (VWD). Therefore, the association between genetic variants and pathogenic mechanism or the clinical and laboratory phenotype is unknown in most patients, especially in type
Externí odkaz:
https://doaj.org/article/b94cb49d3709414589c99a1f377839d1
Autor:
Anna G. W. Rosenberg, Charlotte M. Wellink, Juan M. Tellez Garcia, Karlijn Pellikaan, Denise H. Van Abswoude, Kirsten Davidse, Laura J. C. M. Van Zutven, Hennie T. Brüggenwirth, James L. Resnick, Aart J. Van der Lely, Laura C. G. De Graaff
Publikováno v:
Journal of Clinical Medicine; Volume 11; Issue 14; Pages: 4033
Journal of Clinical Medicine, 11(14):4033. Multidisciplinary Digital Publishing Institute (MDPI)
Journal of Clinical Medicine, 11(14):4033. Multidisciplinary Digital Publishing Institute (MDPI)
Prader–Willi syndrome (PWS) is a complex, rare genetic disorder caused by a loss of expression of paternally expressed genes on chromosome 15q11.2-q13. The most common underlying genotypes are paternal deletion (DEL) and maternal uniparental disomy