Bobby P C Koeleman
Bobby P C Koeleman
Medical Genetics, University Medical Center Utrecht, The Netherlands
E-mail megerősítve itt: umcutrecht.nl - Kezdőlap
Hivatkozott rá
Hivatkozott rá
Mutation in blood coagulation factor V associated with resistance to activated protein C
RM Bertina, BPC Koeleman, T Koster, FR Rosendaal, RJ Dirven, ...
Nature 369 (6475), 64-67, 1994
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ...
Science 360 (6395), eaap8757, 2018
Investigating neural primacy in Major Depressive Disorder: multivariate Granger causality analysis of resting-state fMRI time-series data
JP Hamilton, G Chen, ME Thomason, ME Schwartz, IH Gotlib
Molecular psychiatry 16 (7), 763-772, 2011
15q13. 3 microdeletions increase risk of idiopathic generalized epilepsy
I Helbig, HC Mefford, AJ Sharp, M Guipponi, M Fichera, A Franke, ...
Nature genetics 41 (2), 160-162, 2009
Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families
BP Koeleman, PH Reitsma, CF Allaart, RM Bertina
Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism
J Emmerich, FR Rosendaal, M Cattaneo, M Margaglione, V De Stefano, ...
Thrombosis and haemostasis 86 (09), 809-816, 2001
Recurrent microdeletions at 15q11. 2 and 16p13. 11 predispose to idiopathic generalized epilepsies
CGF de Kovel, H Trucks, I Helbig, HC Mefford, C Baker, C Leu, C Kluck, ...
Brain 133 (1), 23-32, 2010
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus
TRDJ Radstake, O Gorlova, B Rueda, JE Martin, BZ Alizadeh, ...
Nature genetics 42 (5), 426-429, 2010
Incidence of venous thromboembolism in families with inherited thrombophilia
P Simioni, BJ Sanson, P Prandoni, D Tormene, PW Friederich, B Girolami, ...
Thrombosis and haemostasis 81 (02), 198-202, 1999
Hyperhomocysteinemia is a risk factor of recurrent venous thromboembolism
S Eichinger, A Stümpflen, M Hirschl, C Bialonczyk, K Herkner, M Stain, ...
Thrombosis and haemostasis 80 (10), 566-569, 1998
Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia
TGW Letteboer, JJ Mager, RJ Snijder, BPC Koeleman, D Lindhout, ...
Journal of medical genetics 43 (4), 371-377, 2006
Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect
AJ Monsuur, PIW Bakker, BZ Alizadeh, A Zhernakova, MR Bevova, ...
Nature genetics 37 (12), 1341-1344, 2005
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ...
The American Journal of Human Genetics 95 (4), 360-370, 2014
Case-control study of the frequency of thrombophilic disorders in couples with late foetal loss and no thrombotic antecedent
JC Gris, I Quéré, F Monpeyrou, E Mercier, S Ripart-Neveu, ML Tailland, ...
Thrombosis and haemostasis 81 (06), 891-899, 1999
KIR in type 1 diabetes: disparate distribution of activating and inhibitory natural killer cell receptors in patients versus HLA-matched control subjects
AR van der Slik, BPC Koeleman, W Verduijn, GJ Bruining, BO Roep, ...
Diabetes 52 (10), 2639-2642, 2003
The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...
Neurology 84 (5), 480-489, 2015
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
S Syrbe, U Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ...
Nature genetics 47 (4), 393-399, 2015
Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases
A Zhernakova, BZ Alizadeh, M Bevova, MA van Leeuwen, MJH Coenen, ...
The American Journal of Human Genetics 81 (6), 1284-1288, 2007
De novo variants in neurodevelopmental disorders with epilepsy
HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ...
Nature genetics 50 (7), 1048-1053, 2018
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy
O Gorlova, JE Martin, B Rueda, BPC Koeleman, J Ying, M Teruel, ...
PLoS genetics 7 (7), e1002178, 2011
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