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

Por Kuiper, Roland P., Schepens, Marga, Thijssen, José, Schoenmakers, Eric F. P. M., van Kessel, Ad Geurts
Publicado em 2004

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

Por 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
Publicado em 2010

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

Por 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
Publicado em 2010

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

Por 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.
Publicado em 2006

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

Por 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
Publicado em 2002

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

Por 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
Publicado em 2013

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

Por 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.
Publicado em 2003

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

Por 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.
Publicado em 2007

Diagnostic Genome Profiling in Mental Retardation

Por 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.
Publicado em 2005

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

Por 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. 
Publicado em 2003