Results
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Massively parallel sequencing of ataxia genes after array-based enrichment. [electronic resource] by
- Hoischen, Alexander
- Gilissen, Christian
- Arts, Peer
- Wieskamp, Nienke
- van der Vliet, Walter
- Vermeer, Sascha
- Steehouwer, Marloes
- de Vries, Petra
- Meijer, Rowdy
- Seiqueros, Jorge
- Knoers, Nine V A M
- Buckley, Michael F
- Scheffer, Hans
- Veltman, Joris A
Producer: 20100730
In:
Human mutation vol. 31
Availability: No items available.
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3.
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Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. [electronic resource] by
- Gilissen, Christian
- Arts, Heleen H
- Hoischen, Alexander
- Spruijt, Liesbeth
- Mans, Dorus A
- Arts, Peer
- van Lier, Bart
- Steehouwer, Marloes
- van Reeuwijk, Jeroen
- Kant, Sarina G
- Roepman, Ronald
- Knoers, Nine V A M
- Veltman, Joris A
- Brunner, Han G
Producer: 20101007
In:
American journal of human genetics vol. 87
Availability: No items available.
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4.
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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
Availability: No items available.
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5.
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Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-γ therapy. [electronic resource] by
- Arts, Peer
- van de Veerdonk, Frank L
- van der Lee, Robin
- Langereis, Martijn A
- Gilissen, Christian
- van Zelst-Stams, Wendy A G
- Huynen, Martijn A
- van der Meer, Jos W M
- van Kuppeveld, Frank J
- Veltman, Joris A
- Kullberg, Bart Jan
- Hoischen, Alexander
- Netea, Mihai G
Producer: 20180820
In:
The Journal of allergy and clinical immunology vol. 138
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6.
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Human TLR10 is an anti-inflammatory pattern-recognition receptor. [electronic resource] by
- Oosting, Marije
- Cheng, Shih-Chin
- Bolscher, Judith M
- Vestering-Stenger, Rachel
- Plantinga, Theo S
- Verschueren, Ineke C
- Arts, Peer
- Garritsen, Anja
- van Eenennaam, Hans
- Sturm, Patrick
- Kullberg, Bart-Jan
- Hoischen, Alexander
- Adema, Gosse J
- van der Meer, Jos W M
- Netea, Mihai G
- Joosten, Leo A B
Producer: 20150424
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 111
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7.
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Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. [electronic resource] by
- Nikopoulos, Konstantinos
- Gilissen, Christian
- Hoischen, Alexander
- van Nouhuys, C Erik
- Boonstra, F Nienke
- Blokland, Ellen A W
- Arts, Peer
- Wieskamp, Nienke
- Strom, Tim M
- Ayuso, Carmen
- Tilanus, Mauk A D
- Bouwhuis, Sanne
- Mukhopadhyay, Arijit
- Scheffer, Hans
- Hoefsloot, Lies H
- Veltman, Joris A
- Cremers, Frans P M
- Collin, Rob W J
Producer: 20100319
In:
American journal of human genetics vol. 86
Availability: No items available.
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8.
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STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. [electronic resource] by
- van de Veerdonk, Frank L
- Plantinga, Theo S
- Hoischen, Alexander
- Smeekens, Sanne P
- Joosten, Leo A B
- Gilissen, Christian
- Arts, Peer
- Rosentul, Diana C
- Carmichael, Andrew J
- Smits-van der Graaf, Chantal A A
- Kullberg, Bart Jan
- van der Meer, Jos W M
- Lilic, Desa
- Veltman, Joris A
- Netea, Mihai G
Producer: 20110714
In:
The New England journal of medicine vol. 365
Availability: No items available.
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9.
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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. [electronic resource] by
- Hoischen, Alexander
- van Bon, Bregje W M
- Gilissen, Christian
- Arts, Peer
- van Lier, Bart
- Steehouwer, Marloes
- de Vries, Petra
- de Reuver, Rick
- Wieskamp, Nienke
- Mortier, Geert
- Devriendt, Koen
- Amorim, Marta Z
- Revencu, Nicole
- Kidd, Alexa
- Barbosa, Mafalda
- Turner, Anne
- Smith, Janine
- Oley, Christina
- Henderson, Alex
- Hayes, Ian M
- Thompson, Elizabeth M
- Brunner, Han G
- de Vries, Bert B A
- Veltman, Joris A
Producer: 20100617
In:
Nature genetics vol. 42
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10.
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Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder. [electronic resource] by
- Kumar, Raman
- Corbett, Mark A
- Smith, Nicholas J C
- Jolly, Lachlan A
- Tan, Chuan
- Keating, Damien J
- Duffield, Michael D
- Utsumi, Toshihiko
- Moriya, Koko
- Smith, Katherine R
- Hoischen, Alexander
- Abbott, Kim
- Harbord, Michael G
- Compton, Alison G
- Woenig, Joshua A
- Arts, Peer
- Kwint, Michael
- Wieskamp, Nienke
- Gijsen, Sabine
- Veltman, Joris A
- Bahlo, Melanie
- Gleeson, Joseph G
- Haan, Eric
- Gecz, Jozef
Producer: 20160113
In:
Human molecular genetics vol. 24
Availability: No items available.
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11.
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Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans. [electronic resource] by
- Smeekens, Sanne P
- Ng, Aylwin
- Kumar, Vinod
- Johnson, Melissa D
- Plantinga, Theo S
- van Diemen, Cleo
- Arts, Peer
- Verwiel, Eugène T P
- Gresnigt, Mark S
- Fransen, Karin
- van Sommeren, Suzanne
- Oosting, Marije
- Cheng, Shih-Chin
- Joosten, Leo A B
- Hoischen, Alexander
- Kullberg, Bart-Jan
- Scott, William K
- Perfect, John R
- van der Meer, Jos W M
- Wijmenga, Cisca
- Netea, Mihai G
- Xavier, Ramnik J
Producer: 20130620
In:
Nature communications vol. 4
Availability: No items available.
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12.
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Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. [electronic resource] by
- Vermeer, Sascha
- Hoischen, Alexander
- Meijer, Rowdy P P
- Gilissen, Christian
- Neveling, Kornelia
- Wieskamp, Nienke
- de Brouwer, Arjan
- Koenig, Michel
- Anheim, Mathieu
- Assoum, Mirna
- Drouot, Nathalie
- Todorovic, Slobodanka
- Milic-Rasic, Vedrana
- Lochmüller, Hanns
- Stevanin, Giovanni
- Goizet, Cyril
- David, Albert
- Durr, Alexandra
- Brice, Alexis
- Kremer, Berry
- van de Warrenburg, Bart P C
- Schijvenaars, Mascha M V A P
- Heister, Angelien
- Kwint, Michael
- Arts, Peer
- van der Wijst, Jenny
- Veltman, Joris
- Kamsteeg, Erik-Jan
- Scheffer, Hans
- Knoers, Nine
Producer: 20110118
In:
American journal of human genetics vol. 87
Availability: No items available.
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