Resultados de procura - Kees van Roozendaal
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1
Expression of the <i>PDGF α‐receptor</i> 1.5 kb transcript, <i>OCT‐4</i>, and c‐<i>KIT</i> in human normal and malignant tissues. Implications for the early diagnosis of testicular... por Camilla Palumbo, Kees van Roozendaal, Ad Gillis, Ruud H. van Gurp, Hannie de Munnik, J. Wolter Oosterhuis, E J van Zoelen, Leendert H. J. Looijenga
Publicado 2002Artigo -
2
MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression por Suzanna G.M. Frints, Steffen Lenzner, Mareike Bauters, Lars Riff Jensen, Hilde Van Esch, Vincent des Portes, Ute Moog, Merryn Macville, Kees van Roozendaal, C T R M Schrander-Stumpel, Andreas Tzschach, Peter Marynen, Jean‐Pierre Fryns, Ben C.J. Hamel, Hans van Bokhoven, Jamel Chelly, Chérif Beldjord, Gillian Turner, Jozef Gécz, Claude Moraine, Martine Raynaud, Hans Hilger Ropers, Guy Froyen, Andreas W. Kuß
Publicado 2008Artigo -
3
Deleterious de novo variants of X‐linked <i>ZC4H2</i> in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita por Suzanna G.M. Frints, Friederike Hennig, Roberto Colombo, Sébastien Jacquemont, Paulien A. Terhal, Holly H. Zimmerman, David Hunt, Bryce A. Mendelsohn, Ulrike Kordaß, Richard Webster, Margje Sinnema, Omar Abdul‐Rahman, Vanessa Suckow, Alberto Fernández‐Jaén, Kees van Roozendaal, Servi J.C. Stevens, Merryn Macville, Salwan Al‐Nasiry, Koen L.I. van Gassen, N Utzig, Suzanne M. Koudijs, Lesley McGregor, Saskia M. Maas, Diana Baralle, Abhijit Dixit, Peter Wieacker, Marcus Lee, Arthur S. Lee, Elizabeth C. Engle, Gunnar Houge, Gyri Aasland Gradek, Andrew G. L. Douglas, Cheryl Longman, Shelagh Joss, Danita Velasco, Raoul C. M. Hennekam, Hiromi Hirata, Vera M. Kalscheuer
Publicado 2019Artigo -
4
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling por Lot Snijders Blok, Erik Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Margot R.F. Reijnders, Hanka Venselaar, Céline Helsmoortel, Megan T. Cho, Alexander Hoischen, Lisenka E.L.M. Vissers, Tom S. Koemans, W.M. Wissink-Lindhout, Evan E. Eichler, Corrado Romano, Hilde Van Esch, Connie T. R. M. Stumpel, Maaike Vreeburg, Eric Smeets, Karin Oberndorff, Bregje W.M. van Bon, Marie Shaw, Jozef Gécz, Eric Haan, Melanie Bienek, Corinna Jensen, Bart Loeys, Anke Van Dijck, A. Micheil Innes, Hilary Racher, Sascha Vermeer, Nataliya Di Donato, Andreas Rump, Katrina Tatton‐Brown, Michael Parker, Alex Henderson, Sally Ann Lynch, Alan Fryer, Alison Ross, Pradeep Vasudevan, Usha Kini, Ruth Newbury‐Ecob, Kate Chandler, Alison Male, Sybe Dijkstra, Jolanda Schieving, Jacques C. Giltay, Koen L.I. van Gassen, Janneke Schuurs-Hoeijmakers, Perciliz L. Tan, Igor Pediaditakis, Stefan A. Haas, Kyle Retterer, Patrick Reed, Kristin G. Monaghan, Eden Haverfield, Marvin R. Natowicz, Angela Myers, Michael C. Kruer, Quinn Stein, Kevin A. Strauss, Karlla W. Brigatti, Katherine E. Keating, Barbara K. Burton, Katherine H. Kim, Joel Charrow, Jennifer Norman, Audrey Foster‐Barber, Antonie D. Kline, Amy Kimball, Elaine H. Zackai, Margaret Harr, Joyce E. Fox, Julie McLaughlin, Kristin Lindstrom, Katrina Haude, Kees van Roozendaal, Han G. Brunner, Wendy K. Chung, R. Frank Kooy, Rolph Pfundt, Vera M. Kalscheuer, Sarju Mehta, Nicholas Katsanis, Tjitske Kleefstra
Publicado 2015Artigo
Ferramentas de procura:
Materias Relacionadas
Biology
Gene
Genetics
Medicine
Missense mutation
Mutation
Amino acid
Arthrogryposis
Arthrogryposis multiplex congenita
Cancer research
Endocrinology
Frameshift mutation
Gene expression
Growth factor
Haematopoiesis
Intellectual disability
Internal medicine
Methionine
Molecular biology
Monocarboxylate transporter
Nonsense
Nonsense mutation
Phenotype
Platelet-derived growth factor receptor
Proto-Oncogene Proteins c-kit
Psychology
Receptor
Receptor tyrosine kinase
Signal transduction
Stem cell