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

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

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

di 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
Pubblicazione 2010

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

di 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
Pubblicazione 2010

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

di 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.
Pubblicazione 2006

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

di 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
Pubblicazione 2002

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

di 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
Pubblicazione 2013

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

di 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.
Pubblicazione 2003

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

di 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.
Pubblicazione 2007

Diagnostic Genome Profiling in Mental Retardation

di 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.
Pubblicazione 2005

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

di 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. 
Pubblicazione 2003