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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
Availability: No items available.
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6.
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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
Availability: No items available.
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7.
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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
Availability: No items available.
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8.
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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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9.
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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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10.
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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
Availability: No items available.
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11.
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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
Availability: No items available.
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12.
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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
Availability: No items available.
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13.
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Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. [electronic resource] by
- Pfundt, Rolph
- Del Rosario, Marisol
- Vissers, Lisenka E L M
- Kwint, Michael P
- Janssen, Irene M
- de Leeuw, Nicole
- Yntema, Helger G
- Nelen, Marcel R
- Lugtenberg, Dorien
- Kamsteeg, Erik-Jan
- Wieskamp, Nienke
- Stegmann, Alexander P A
- Stevens, Servi J C
- Rodenburg, Richard J T
- Simons, Annet
- Mensenkamp, Arjen R
- Rinne, Tuula
- Gilissen, Christian
- Scheffer, Hans
- Veltman, Joris A
- Hehir-Kwa, Jayne Y
Producer: 20180213
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 19
Availability: No items available.
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14.
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Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. [electronic resource] by
- 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
Producer: 20040206
In:
American journal of human genetics vol. 73
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15.
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Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. [electronic resource] by
- Schuurs-Hoeijmakers, Janneke H M
- Vulto-van Silfhout, Anneke T
- Vissers, Lisenka E L M
- van de Vondervoort, Ilse I G M
- van Bon, Bregje W M
- de Ligt, Joep
- Gilissen, Christian
- Hehir-Kwa, Jayne Y
- Neveling, Kornelia
- del Rosario, Marisol
- Hira, Gausiya
- Reitano, Santina
- Vitello, Aurelio
- Failla, Pinella
- Greco, Donatella
- Fichera, Marco
- Galesi, Ornella
- Kleefstra, Tjitske
- Greally, Marie T
- Ockeloen, Charlotte W
- Willemsen, Marjolein H
- Bongers, Ernie M H F
- Janssen, Irene M
- Pfundt, Rolph
- Veltman, Joris A
- Romano, Corrado
- Willemsen, Michèl A
- van Bokhoven, Hans
- Brunner, Han G
- de Vries, Bert B A
- de Brouwer, Arjan P M
Producer: 20140603
In:
Journal of medical genetics vol. 50
Availability: No items available.
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16.
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Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. [electronic resource] by
- Schuurs-Hoeijmakers, Janneke H M
- Geraghty, Michael T
- Kamsteeg, Erik-Jan
- Ben-Salem, Salma
- de Bot, Susanne T
- Nijhof, Bonnie
- van de Vondervoort, Ilse I G M
- van der Graaf, Marinette
- Nobau, Anna Castells
- Otte-Höller, Irene
- Vermeer, Sascha
- Smith, Amanda C
- Humphreys, Peter
- Schwartzentruber, Jeremy
- Ali, Bassam R
- Al-Yahyaee, Saeed A
- Tariq, Said
- Pramathan, Thachillath
- Bayoumi, Riad
- Kremer, Hubertus P H
- van de Warrenburg, Bart P
- van den Akker, Willem M R
- Gilissen, Christian
- Veltman, Joris A
- Janssen, Irene M
- Vulto-van Silfhout, Anneke T
- van der Velde-Visser, Saskia
- Lefeber, Dirk J
- Diekstra, Adinda
- Erasmus, Corrie E
- Willemsen, Michèl A
- Vissers, Lisenka E L M
- Lammens, Martin
- van Bokhoven, Hans
- Brunner, Han G
- Wevers, Ron A
- Schenck, Annette
- Al-Gazali, Lihadh
- de Vries, Bert B A
- de Brouwer, Arjan P M
Producer: 20130214
In:
American journal of human genetics vol. 91
Availability: No items available.
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