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A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12. [electronic resource] by
- Bartsch, Oliver
- Schindler, Detlev
- Beyer, Vera
- Gesk, Stefan
- van't Slot, Ruben
- Feddersen, Isa
- Buijs, Arjan
- Jaspers, Nicolaas G J
- Siebert, Reiner
- Haaf, Thomas
- Poot, Martin
Producer: 20120605
In:
European journal of medical genetics vol. 55
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Genetic susceptibility to respiratory syncytial virus bronchiolitis in preterm children is associated with airway remodeling genes and innate immune genes. [electronic resource] by
- Siezen, Christine L E
- Bont, Louis
- Hodemaekers, Hennie M
- Ermers, Marieke J
- Doornbos, Gerda
- Van't Slot, Ruben
- Wijmenga, Ciska
- Houwelingen, Hans C van
- Kimpen, Jan L L
- Kimman, Tjeerd G
- Hoebee, Barbara
- Janssen, Riny
Producer: 20090520
In:
The Pediatric infectious disease journal vol. 28
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Reliable high-throughput genotyping and loss-of-heterozygosity detection in formalin-fixed, paraffin-embedded tumors using single nucleotide polymorphism arrays. [electronic resource] by
- Lips, Esther H
- Dierssen, Jan Willem F
- van Eijk, Ronald
- Oosting, Jan
- Eilers, Paul H C
- Tollenaar, Rob A E M
- de Graaf, Eelco J
- van't Slot, Ruben
- Wijmenga, Cisca
- Morreau, Hans
- van Wezel, Tom
Producer: 20060118
In:
Cancer research vol. 65
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Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations. [electronic resource] by
- Einarsdottir, Elisabet
- Bevova, Marianna R
- Zhernakova, Alexandra
- Monsuur, Alienke
- Koskinen, Lotta L E
- van't Slot, Ruben
- Mulder, Chris
- Mearin, M Luisa
- Korponay-Szabo, Ilma R
- Kaukinen, Katri
- Kurppa, Kalle
- Kere, Juha
- Mäki, Markku
- Wijmenga, Cisca
- Saavalainen, Päivi
Producer: 20110913
In:
European journal of human genetics : EJHG vol. 19
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Association study of single nucleotide polymorphisms on chromosome 19q13 with abdominal aortic aneurysm. [electronic resource] by
- Baas, Annette F
- Medic, Jelena
- van't Slot, Ruben
- de Vries, Jean-Paul P M
- van Sambeek, Marc R H M
- Geelkerken, Bob H
- Boll, Bart P
- Grobbee, Diederick E
- Wijmenga, Cisca
- Ruigrok, Ynte M
- Blankensteijn, Jan D
Producer: 20100630
In:
Angiology vol. 61
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Discovery of variants unmasked by hemizygous deletions. [electronic resource] by
- Hochstenbach, Ron
- Poot, Martin
- Nijman, Isaac J
- Renkens, Ivo
- Duran, Karen J
- Van't Slot, Ruben
- van Binsbergen, Ellen
- van der Zwaag, Bert
- Vogel, Maartje J
- Terhal, Paulien A
- Ploos van Amstel, Hans Kristian
- Kloosterman, Wigard P
- Cuppen, Edwin
Producer: 20121012
In:
European journal of human genetics : EJHG vol. 20
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The intracranial aneurysm susceptibility genes HSPG2 and CSPG2 are not associated with abdominal aortic aneurysm. [electronic resource] by
- Baas, Annette F
- Medic, Jelena
- van't Slot, Ruben
- de Vries, Jean-Paul P M
- van Sambeek, Marc R H M
- Verhoeven, Eric L G
- Boll, Bart P
- Grobbee, Diederick E
- Wijmenga, Cisca
- Blankensteijn, Jan D
- Ruigrok, Ynte M
Producer: 20100630
In:
Angiology vol. 61
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Identification of the oxidative stress-related gene MSRA as a rheumatoid arthritis susceptibility locus by genome-wide pathway analysis. [electronic resource] by
- Martín, Jose-Ezequiel
- Alizadeh, Behrooz Z
- González-Gay, Miguel A
- Balsa, Alejandro
- Pascual-Salcedo, Dora
- Fernández-Gutiérrez, Benjamín
- Raya, Enrique
- Franke, Lude
- van't Slot, Ruben
- Coenen, Marieke J H
- van Riel, Piet
- Radstake, Timothy R D J
- Koeleman, Bobby P C
- Martín, Javier
Producer: 20101130
In:
Arthritis and rheumatism vol. 62
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Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus. [electronic resource] by
- Harakalova, Magdalena
- van der Smagt, Jasper
- de Kovel, Carolien G F
- Van't Slot, Ruben
- Poot, Martin
- Nijman, Isaac J
- Medic, Jelena
- Joziasse, Irene
- Deckers, Jaap
- Roos-Hesselink, Jolien W
- Wessels, Marja W
- Baars, Hubert F
- Weiss, Marjan M
- Pals, Gerard
- Golmard, Lisa
- Jeunemaitre, Xavier
- Lindhout, Dick
- Cuppen, Edwin
- Baas, Annette F
Producer: 20131017
In:
European journal of human genetics : EJHG vol. 21
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Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect. [electronic resource] by
- Monsuur, Alienke J
- de Bakker, Paul I W
- Alizadeh, Behrooz Z
- Zhernakova, Alexandra
- Bevova, Marianna R
- Strengman, Eric
- Franke, Lude
- van't Slot, Ruben
- van Belzen, Martine J
- Lavrijsen, Ineke C M
- Diosdado, Begoña
- Daly, Mark J
- Mulder, Chris J J
- Mearin, M Luisa
- Meijer, Jos W R
- Meijer, Gerrit A
- van Oort, Erica
- Wapenaar, Martin C
- Koeleman, Bobby P C
- Wijmenga, Cisca
Producer: 20060203
In:
Nature genetics vol. 37
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Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. [electronic resource] by
- de Kovel, Carolien G F
- Brilstra, Eva H
- van Kempen, Marjan J A
- Van't Slot, Ruben
- Nijman, Isaac J
- Afawi, Zaid
- De Jonghe, Peter
- Djémié, Tania
- Guerrini, Renzo
- Hardies, Katia
- Helbig, Ingo
- Hendrickx, Rik
- Kanaan, Moine
- Kramer, Uri
- Lehesjoki, Anna-Elina E
- Lemke, Johannes R
- Marini, Carla
- Mei, Davide
- Møller, Rikke S
- Pendziwiat, Manuela
- Stamberger, Hannah
- Suls, Arvid
- Weckhuysen, Sarah
- Koeleman, Bobby P C
Producer: 20160921
In:
Molecular genetics & genomic medicine vol. 4
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Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. [electronic resource] by
- van Es, Michael A
- van Vught, Paul W J
- Blauw, Hylke M
- Franke, Lude
- Saris, Christiaan G J
- Van den Bosch, Ludo
- de Jong, Sonja W
- de Jong, Vianney
- Baas, Frank
- van't Slot, Ruben
- Lemmens, Robin
- Schelhaas, Helenius J
- Birve, Anna
- Sleegers, Kristel
- Van Broeckhoven, Christine
- Schymick, Jennifer C
- Traynor, Bryan J
- Wokke, John H J
- Wijmenga, Cisca
- Robberecht, Wim
- Andersen, Peter M
- Veldink, Jan H
- Ophoff, Roel A
- van den Berg, Leonard H
Producer: 20080118
In:
Nature genetics vol. 40
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18.
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Clinical and genetic analysis of a family with two rare reflex epilepsies. [electronic resource] by
- Kasteleijn-Nolst Trenité, Dorothée G A
- Volkers, Linda
- Strengman, Eric
- Schippers, Herman M
- Perquin, Willem
- de Haan, Gerrit-Jan
- Gkountidi, Anastasia O
- van't Slot, Ruben
- van de Graaf, Stan F
- de Graaf, Stan F
- Jocic-Jakubi, Bosanka
- Capovilla, Giuseppe
- Covanis, Athanasios
- Parisi, Pasquale
- Veggiotti, Pierangelo
- Brinciotti, Mario
- Incorpora, Gemma
- Piccioli, Marta
- Cantonetti, Laura
- Berkovic, Samuel F
- Scheffer, Ingrid E
- Brilstra, Eva H
- Sonsma, Anja C M
- Bader, Adri J
- de Kovel, Carolien G F
- Koeleman, Bobby P C
Producer: 20160414
In:
Seizure vol. 29
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19.
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A large genome scan for rare CNVs in amyotrophic lateral sclerosis. [electronic resource] by
- Blauw, Hylke M
- Al-Chalabi, Ammar
- Andersen, Peter M
- van Vught, Paul W J
- Diekstra, Frank P
- van Es, Michael A
- Saris, Christiaan G J
- Groen, Ewout J N
- van Rheenen, Wouter
- Koppers, Max
- Van't Slot, Ruben
- Strengman, Eric
- Estrada, Karol
- Rivadeneira, Fernando
- Hofman, Albert
- Uitterlinden, Andre G
- Kiemeney, Lambertus A
- Vermeulen, Sita H M
- Birve, Anna
- Waibel, Stefan
- Meyer, Thomas
- Cronin, Simon
- McLaughlin, Russell L
- Hardiman, Orla
- Sapp, Peter C
- Tobin, Martin D
- Wain, Louise V
- Tomik, Barbara
- Slowik, Agnieszka
- Lemmens, Robin
- Rujescu, Dan
- Schulte, Claudia
- Gasser, Thomas
- Brown, Robert H
- Landers, John E
- Robberecht, Wim
- Ludolph, Albert C
- Ophoff, Roel A
- Veldink, Jan H
- van den Berg, Leonard H
Producer: 20110301
In:
Human molecular genetics vol. 19
Availability: No items available.
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