TRPC6 single nucleotide polymorphisms and progression of idiopathic membranous nephropathy.

by Julia M Hofstra, Marieke J H Coenen, Mascha M V A P Schijvenaars, Jo H M Berden, Johan van der Vlag, Lies H Hoefsloot, Nine V A M Knoers, Jack F M Wetzels, Tom Nijenhuis
Published 2014-01-01

Social and medical need for whole genome high resolution NIPT

by Malgorzata I. Srebniak, Maarten F. C. M. Knapen, Lutgarde C. P. Govaerts, Marike Polak, Marieke Joosten, Karin E. M. Diderich, Laura J. C. M. van Zutven, Krista A. K. E. Prinsen, Sam Riedijk, Attie T. J. I. Go, Robert‐Jan H. Galjaard, Lies H. Hoefsloot, Diane Van Opstal
Published 2020-01-01

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

by Stijn L.M. in ’t Groen, Douglas O.S. de Faria, Alessandro Iuliano, Johanna M.P. van den Hout, Hannie Douben, Trijnie Dijkhuizen, David Cassiman, Peter Witters, Miguel-Ángel Barba Romero, Annelies de Klein, Galhana M. Somers-Bolman, Jasper J. Saris, Lies H. Hoefsloot, Ans T. van der Ploeg, Atze J. Bergsma, W.W.M. Pim Pijnappel
Published 2020-06-01