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Disruption of a novel MFS transporter gene, DIRC2, by a familial renal cell carcinoma-associated t(2;3)(q35;q21). [electronic resource] by
- Bodmer, Daniëlle
- Eleveld, Marc
- Kater-Baats, Ellen
- Janssen, Irene
- Janssen, Bert
- Weterman, Marian
- Schoenmakers, Eric
- Nickerson, Michael
- Linehan, Marston
- Zbar, Berton
- van Kessel, Ad Geurts
Producer: 20020822
In:
Human molecular genetics vol. 11
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Identification of recurrent chromosomal aberrations in germ cell tumors of neonates and infants using genomewide array-based comparative genomic hybridization. [electronic resource] by
- Veltman, Imke
- Veltman, Joris
- Janssen, Irene
- Hulsbergen-van de Kaa, Christina
- Oosterhuis, Wolter
- Schneider, Dominik
- Stoop, Hans
- Gillis, Ad
- Zahn, Susanne
- Looijenga, Leendert
- Göbel, Ulrich
- van Kessel, Ad Geurts
Producer: 20050809
In:
Genes, chromosomes & cancer vol. 43
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High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. [electronic resource] by
- 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
Producer: 20020523
In:
American journal of human genetics vol. 70
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Identification of tumor-specific molecular signatures in intracranial ependymoma and association with clinical characteristics. [electronic resource] by
- Modena, Piergiorgio
- Lualdi, Elena
- Facchinetti, Federica
- Veltman, Joris
- Reid, James F
- Minardi, Simone
- Janssen, Irene
- Giangaspero, Felice
- Forni, Marco
- Finocchiaro, Gaetano
- Genitori, Lorenzo
- Giordano, Flavio
- Riccardi, Riccardo
- Schoenmakers, Eric F P M
- Massimino, Maura
- Sozzi, Gabriella
Producer: 20061218
In:
Journal of clinical oncology : official journal of the American Society of Clinical Oncology vol. 24
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Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA. [electronic resource] by
- Buysse, Karen
- de Ligt, Joep
- Janssen, Irene M
- van Bon, Bregje W M
- Gomes, Ingrid
- Hehir-Kwa, Jayne
- Eggink, Alex J
- van Vugt, John M G
- Vissers, Lisenka E L M
- Geurts van Kessel, Ad
- Faas, Brigitte H W
Producer: 20141204
In:
Prenatal diagnosis vol. 34
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A de novo paradigm for mental retardation. [electronic resource] by
- Vissers, Lisenka E L M
- de Ligt, Joep
- Gilissen, Christian
- Janssen, Irene
- Steehouwer, Marloes
- de Vries, Petra
- van Lier, Bart
- Arts, Peer
- Wieskamp, Nienke
- del Rosario, Marisol
- van Bon, Bregje W M
- Hoischen, Alexander
- de Vries, Bert B A
- Brunner, Han G
- Veltman, Joris A
Producer: 20101230
In:
Nature genetics vol. 42
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Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. [electronic resource] by
- 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
Producer: 20030722
In:
American journal of human genetics vol. 72
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Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture. [electronic resource] by
- Buysse, Karen
- Beulen, Lean
- Gomes, Ingrid
- Gilissen, Christian
- Keesmaat, Chantal
- Janssen, Irene M
- Derks-Willemen, Judith J H T
- de Ligt, Joep
- Feenstra, Ilse
- Bekker, Mireille N
- van Vugt, John M G
- Geurts van Kessel, Ad
- Vissers, Lisenka E L M
- Faas, Brigitte H W
Producer: 20140826
In:
Clinical biochemistry vol. 46
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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. [electronic resource] by
- Vissers, Lisenka E L M
- Bhatt, Samarth S
- Janssen, Irene M
- Xia, Zhilian
- Lalani, Seema R
- Pfundt, Rolph
- Derwinska, Katarzyna
- de Vries, Bert B A
- Gilissen, Christian
- Hoischen, Alexander
- Nesteruk, Monika
- Wisniowiecka-Kowalnik, Barbara
- Smyk, Marta
- Brunner, Han G
- Cheung, Sau Wai
- van Kessel, Ad Geurts
- Veltman, Joris A
- Stankiewicz, Pawel
Producer: 20091109
In:
Human molecular genetics vol. 18
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Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. [electronic resource] by
- den Hollander, Anneke I
- Lopez, Irma
- Yzer, Suzanne
- Zonneveld, Marijke N
- Janssen, Irene M
- Strom, Tim M
- Hehir-Kwa, Jayne Y
- Veltman, Joris A
- Arends, Maarten L
- Meitinger, Thomas
- Musarella, Maria A
- van den Born, L Ingeborgh
- Fishman, Gerald A
- Maumenee, Irene H
- Rohrschneider, Klaus
- Cremers, Frans P M
- Koenekoop, Robert K
Producer: 20080129
In:
Investigative ophthalmology & visual science vol. 48
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Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. [electronic resource] by
- Vissers, Lisenka E L M
- Cox, Timothy C
- Maga, A Murat
- Short, Kieran M
- Wiradjaja, Fenny
- Janssen, Irene M
- Jehee, Fernanda
- Bertola, Debora
- Liu, Jia
- Yagnik, Garima
- Sekiguchi, Kiyotoshi
- Kiyozumi, Daiji
- van Bokhoven, Hans
- Marcelis, Carlo
- Cunningham, Michael L
- Anderson, Peter J
- Boyadjiev, Simeon A
- Passos-Bueno, Maria Rita
- Veltman, Joris A
- Smyth, Ian
- Buckley, Michael F
- Roscioli, Tony
Producer: 20120123
In:
PLoS genetics vol. 7
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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. [electronic resource] by
- Vissers, Lisenka E L M
- van Ravenswaaij, Conny M A
- Admiraal, Ronald
- Hurst, Jane A
- de Vries, Bert B A
- Janssen, Irene M
- van der Vliet, Walter A
- Huys, Erik H L P G
- de Jong, Pieter J
- Hamel, Ben C J
- Schoenmakers, Eric F P M
- Brunner, Han G
- Veltman, Joris A
- van Kessel, Ad Geurts
Producer: 20041004
In:
Nature genetics vol. 36
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Diagnostic genome profiling in mental retardation. [electronic resource] by
- 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
Producer: 20051115
In:
American journal of human genetics vol. 77
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Genome sequencing identifies major causes of severe intellectual disability. [electronic resource] by
- Gilissen, Christian
- Hehir-Kwa, Jayne Y
- Thung, Djie Tjwan
- van de Vorst, Maartje
- van Bon, Bregje W M
- Willemsen, Marjolein H
- Kwint, Michael
- Janssen, Irene M
- Hoischen, Alexander
- Schenck, Annette
- Leach, Richard
- Klein, Robert
- Tearle, Rick
- Bo, Tan
- Pfundt, Rolph
- Yntema, Helger G
- de Vries, Bert B A
- Kleefstra, Tjitske
- Brunner, Han G
- Vissers, Lisenka E L M
- Veltman, Joris A
Producer: 20140819
In:
Nature vol. 511
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