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

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

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

Tekijä 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
Julkaistu 2010

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

Tekijä 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
Julkaistu 2010

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

Tekijä 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.
Julkaistu 2006

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

Tekijä 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
Julkaistu 2002

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

Tekijä 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
Julkaistu 2013

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

Tekijä 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.
Julkaistu 2003

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

Tekijä 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.
Julkaistu 2007

Diagnostic Genome Profiling in Mental Retardation

Tekijä 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.
Julkaistu 2005

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

Tekijä 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. 
Julkaistu 2003