Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains

av Kuiper, Roland P., Schepens, Marga, Thijssen, José, Schoenmakers, Eric F. P. M., van Kessel, Ad Geurts
Publicerad 2004

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

av Volpi, Ludovica, Roversi, Gaia, Colombo, Elisa Adele, Leijsten, Nico, Concolino, Daniela, Calabria, Andrea, Mencarelli, Maria Antonietta, Fimiani, Michele, Macciardi, Fabio, Pfundt, Rolph, Schoenmakers, Eric F.P.M., Larizza, Lidia
Publicerad 2010

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

av Volpi, Ludovica, Roversi, Gaia, Colombo, Elisa Adele, Leijsten, Nico, Concolino, Daniela, Calabria, Andrea, Mencarelli, Maria Antonietta, Fimiani, Michele, Macciardi, Fabio, Pfundt, Rolph, Schoenmakers, Eric F.P.M., Larizza, Lidia
Publicerad 2010

XX Male With Sex Reversal and a De Novo 11;22 Translocation

av Macville, Merryn V.E., Loneus, Wim H., Marcus-Soekarman, Dominique, Huys, Erik H.L.P.G., Schoenmakers, Eric F.P.M., Schrank-Hacker, April, Emanuel, Beverly S., Engelen, John J.M.
Publicerad 2006

High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization

av Veltman, Joris A., Schoenmakers, Eric F. P. M., Eussen, Bert H., Janssen, Irene, Merkx, Gerard, van Cleef, Brigitte, van Ravenswaaij, Conny M., Brunner, Han G., Smeets, Dominique, van Kessel, Ad Geurts
Publicerad 2002

Initial Clinical Sensitivity and Acquired Resistance to MET Inhibition in MET-Mutated Papillary Renal Cell Carcinoma

av Diamond, Jennifer R., Salgia, Ravi, Varella-Garcia, Marileila, Kanteti, Rajani, LoRusso, Patricia M., Clark, Jeffrey W., Xu, Ling-Guo, Wilner, Keith, Eckhardt, S. Gail, Ching, Keith A., Lira, Maruja E., Schoenmakers, Eric F.P.M., Christensen, James G., Camidge, D. Ross
Publicerad 2013

Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH

av Veltman, Joris A., Jonkers, Yvonne, Nuijten, Inge, Janssen, Irene, van der Vliet, Walter, Huys, Erik, Vermeesch, Joris, Van Buggenhout, Griet, Fryns, Jean-Pierre, Admiraal, Ronald, Terhal, Paulien, Lacombe, Didier, van Kessel, Ad Geurts, Smeets, Dominique, Schoenmakers, Eric F. P. M., van Ravenswaaij-Arts, Conny M.
Publicerad 2003

Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridization

av Osoegawa, Kazutoyo, Vessere, Gery M., Utami, Kagistia Hana, Mansilla, Maria Adela, Johnson, Marla K., Riley, Bridget M., L’Heureux, Jamie, Pfundt, Rolph, Staaf, Johan, van der Vliet, Walter A., Lidral, Andrew C., Schoenmakers, Eric F. P. M., Borg, Ake, Schutte, Brian C., Lammer, Edward J., Murray, Jeffrey C., de Jong, Pieter J.
Publicerad 2007

Diagnostic Genome Profiling in Mental Retardation

av de Vries, Bert B. A., Pfundt, Rolph, Leisink, Martijn, Koolen, David A., Vissers, Lisenka E. L. M., Janssen, Irene M., Reijmersdal, Simon van, Nillesen, Willy M., Huys, Erik H. L. P. G., Leeuw, Nicole de, Smeets, Dominique, Sistermans, Erik A., Feuth, Ton, van Ravenswaaij-Arts, Conny M. A., van Kessel, Ad Geurts, Schoenmakers, Eric F. P. M., Brunner, Han G., Veltman, Joris A.
Publicerad 2005

Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

av Vissers, Lisenka E. L. M. , de Vries, Bert B. A. , Osoegawa, Kazutoyo , Janssen, Irene M. , Feuth, Ton , Choy, Chik On , Straatman, Huub , van der Vliet, Walter , Huys, Erik H. L. P. G. , van Rijk, Anke , Smeets, Dominique , van Ravenswaaij-Arts, Conny M. A. , Knoers, Nine V. , van der Burgt, Ineke , de Jong, Pieter J. , Brunner, Han G. , van Kessel, Ad Geurts , Schoenmakers, Eric F. P. M. , Veltman, Joris A. 
Publicerad 2003