Zobrazeno 1 - 4
of 4
pro vyhledávání: ''
Autor:
Mirjam Plantinga, Marjolein Y. Berger, Irene M. van Langen, Erwin Birnie, Kristin M. Abbott, Anneke Lucassen, Adelita V. Ranchor, Juliette Schuurmans, Angela Fenwick
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 23(9), 1761-1768. Nature Publishing Group
Genetics in Medicine, 23(9), 1761-1768. Nature Publishing Group
Purpose: the aim of expanded preconception carrier screening (ECS) is to inform any couple wishing to conceive about their chances of having children with severe autosomal or X-linked recessive conditions. Responsible implementation of ECS as reprodu
Autor:
Shinji Saitoh, Akie Nakamura, Reiko Horikawa, Maki Fukami, Tohru Yorifuji, Rika Kosaki, Keisuke Nagasaki, Tsutomu Ogata, Keiko Matsubara, Seiji Mizuno, Chikahiko Numakura, Masayo Kagami, Yasuhiro Naiki, Toshihiro Tajima
Publikováno v:
Genetics in Medicine
Purpose Temple syndrome (TS14) is a rare imprinting disorder caused by aberrations at the 14q32.2 imprinted region. Here, we report comprehensive molecular and clinical findings in 32 Japanese patients with TS14. Methods We performed molecular studie
Autor:
Ingrid M.E. Frohn-Mulder, Rolf M. F. Berger, Robert M.W. Hofstra, Jolien W. Roos-Hesselink, Wilhelmina S. Kerstjens-Frederikse, Klaske D. Lichtenbelt, Ingrid M.B.H. van de Laar, Jolien S. Klein Wassink-Ruiter, Marja W. Wessels, Yvonne J. Vos, Johan H P Janssen, Joost P. van Melle, Karin Y. van Spaendonck-Zwarts, C. M. Bilardo, Paul A. van der Zwaag, Judith M.A. Verhagen, Klasien A. Bergman, Gideon J. du Marchie Sarvaas
Publikováno v:
Genetics in Medicine, 18(9), 914-923. Nature Publishing Group
Genetics in Medicine, 18(9), 914-923. Lippincott Williams & Wilkins
Genetics in Medicine, 18(9), 914–923. Lippincott Williams and Wilkins
Genetics in Medicine, 18(9), 914-923. Lippincott Williams & Wilkins
Genetics in Medicine, 18(9), 914–923. Lippincott Williams and Wilkins
Purpose: We aimed to determine the prevalence and phenotypic spectrum of NOTCH1 mutations in left-sided congenital heart disease (LS-CHD). LS-CHD includes aortic valve stenosis, a bicuspid aortic valve, coarctation of the aorta, and hypoplastic left
Autor:
Gregory A. Grabowski, Gabriel M. Cohn, Neal J. Weinreb, Ozlem Goker-Alpan, Gregory M. Pastores, Barry E. Rosenbloom, David Zahrieh
Publikováno v:
Genetics in Medicine
Purpose: To evaluate the safety of velaglucerase alfa in patients with type 1 Gaucher disease who received velaglucerase alfa in the US treatment protocol HGT-GCB-058 (ClinicalTrials.gov identifier NCT00954460) during a global supply shortage of imig