Management of a Giant Omphalocele with Non–Cross-Linked Intact Porcine-Derived Acellular Dermal Matrix (Strattice) Combined with Vacuum Therapy

by Daisy Vieira Travassos, Albertien M. van Eerde, William L.M. Kramer
Published 2015-06-01

Wnt5a Deficiency Leads to Anomalies in Ureteric Tree Development, Tubular Epithelial Cell Organization and Basement Membrane Integrity Pointing to a Role in Kidney Collecting Duct...

by Ilkka Pietilä, Renata Prunskaite-Hyyryläinen, Susanna Kaisto, Elisavet Tika, Albertien M van Eerde, Antti M Salo, Leonardo Garma, Ilkka Miinalainen, Wout F Feitz, Ernie M H F Bongers, André Juffer, Nine V A M Knoers, Kirsten Y Renkema, Johanna Myllyharju, Seppo J Vainio
Published 2016-01-01

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

by Johanne Dubail, Céline Huber, Sandrine Chantepie, Stephan Sonntag, Beyhan Tüysüz, Ercan Mihci, Christopher T. Gordon, Elisabeth Steichen-Gersdorf, Jeanne Amiel, Banu Nur, Irene Stolte-Dijkstra, Albertien M. van Eerde, Koen L. van Gassen, Corstiaan C. Breugem, Alexander Stegmann, Caroline Lekszas, Reza Maroofian, Ehsan Ghayoor Karimiani, Arnaud Bruneel, Nathalie Seta, Arnold Munnich, Dulce Papy-Garcia, Muriel De La Dure-Molla, Valérie Cormier-Daire
Published 2018-08-01

Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.

by Albertien M van Eerde, Karen Duran, Els van Riel, Carolien G F de Kovel, Bobby P C Koeleman, Nine V A M Knoers, Kirsten Y Renkema, Henricus J R van der Horst, Arend Bökenkamp, Johanna M van Hagen, Leonard H van den Berg, Katja P Wolffenbuttel, Joop van den Hoek, Wouter F Feitz, Tom P V M de Jong, Jacques C Giltay, Cisca Wijmenga
Published 2012-01-01

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

by Christelle Arrondel, Sophia Missoury, Rozemarijn Snoek, Julie Patat, Giulia Menara, Bruno Collinet, Dominique Liger, Dominique Durand, Olivier Gribouval, Olivia Boyer, Laurine Buscara, Gaëlle Martin, Eduardo Machuca, Fabien Nevo, Ewen Lescop, Daniela A. Braun, Anne-Claire Boschat, Sylvia Sanquer, Ida Chiara Guerrera, Patrick Revy, Mélanie Parisot, Cécile Masson, Nathalie Boddaert, Marina Charbit, Stéphane Decramer, Robert Novo, Marie-Alice Macher, Bruno Ranchin, Justine Bacchetta, Audrey Laurent, Sophie Collardeau-Frachon, Albertien M. van Eerde, Friedhelm Hildebrandt, Daniella Magen, Corinne Antignac, Herman van Tilbeurgh, Géraldine Mollet
Published 2019-09-01

Identification of human D lactate dehydrogenase deficiency

by Glen R. Monroe, Albertien M. van Eerde, Federico Tessadori, Karen J. Duran, Sanne M. C. Savelberg, Johanna C. van Alfen, Paulien A. Terhal, Saskia N. van der Crabben, Klaske D. Lichtenbelt, Sabine A. Fuchs, Johan Gerrits, Markus J. van Roosmalen, Koen L. van Gassen, Mirjam van Aalderen, Bart G. Koot, Marlies Oostendorp, Marinus Duran, Gepke Visser, Tom J. de Koning, Francesco Calì, Paolo Bosco, Karin Geleijns, Monique G. M. de Sain-van der Velden, Nine V. Knoers, Jeroen Bakkers, Nanda M. Verhoeven-Duif, Gijs van Haaften, Judith J. Jans
Published 2019-04-01