Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Jenni Sotkasiira"'
Autor:
Minna K Karjalainen, Johanna M Huusko, Johanna Ulvila, Jenni Sotkasiira, Aino Luukkonen, Kari Teramo, Jevon Plunkett, Verneri Anttila, Aarno Palotie, Ritva Haataja, Louis J Muglia, Mikko Hallman
Publikováno v:
PLoS ONE, Vol 7, Iss 12, p e51378 (2012)
Preterm birth is the major cause of neonatal mortality and morbidity. In many cases, it has severe life-long consequences for the health and neurological development of the newborn child. More than 50% of all preterm births are spontaneous, and curre
Externí odkaz:
https://doaj.org/article/6340bf155ea741d78d83b3b96d7c8d15
Autor:
Valérie Cormier-Daire, Sharon E. Plon, Kathelijn Keymolen, Katariina Hannula-Jouppi, Jenni Sotkasiira, Ajoy Sarkar, Denise Herzog, Martine Biervliet, Abdelmadjid Benmansour, Alain Verloes, Raoul C.M. Hennekam, Fernando Regla Vargas, Peter Miny, Marita Lipsanen-Nyman, Lisa L. Wang, Marjo Kestilä, Yline Capri, Helena Kääriäinen, H. Annika Siitonen, Stefan Riedl, Barbara F. Crandall
Publikováno v:
European journal of human genetics
European journal of human genetics, 17(2), 151-158. Nature Publishing Group
European journal of human genetics, 17(2), 151-158. Nature Publishing Group
Mutations in the RECQL4 gene can lead to three clinical phenotypes with overlapping features. All these syndromes, Rothmund-Thomson (RTS), RAPADILINO and Baller-Gerold (BGS), are characterized by growth retardation and radial defects, but RAPADILINO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b2446c70cdb054924338195d7195b6d
https://doi.org/10.1038/ejhg.2008.154
https://doi.org/10.1038/ejhg.2008.154