Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity
Taft, Ryan J., Vanderver, Adeline, Leventer, Richard J., Damiani, Stephen A., Simons, Cas, Grimmond, Sean M., Miller, David, Schmidt, Johanna, Lockhart, Paul J., Pope, Kate, Ru, Kelin, Crawford, Joanna, Rosser, Tena, de Coo, Irenaeus F.M., Juneja, Monica, Verma, Ishwar C., Prabhakar, Prab, Blaser, Susan, Raiman, Julian, Pouwels, Petra J.W., Bevova, Marianna R., Abbink, Truus E.M., van der Knaap, Marjo S., Wolf, Nicole I.
Published in American journal of human genetics (02.05.2013)
Published in American journal of human genetics (02.05.2013)
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A fine-mapping study of 7 top scoring genes from a GWAS for major depressive disorder
Verbeek, Eva C, Bakker, Ingrid M C, Bevova, Marianna R, Bochdanovits, Zoltán, Rizzu, Patrizia, Sondervan, David, Willemsen, Gonneke, de Geus, Eco J, Smit, Johannes H, Penninx, Brenda W, Boomsma, Dorret I, Hoogendijk, Witte J G, Heutink, Peter
Published in PloS one (23.05.2012)
Published in PloS one (23.05.2012)
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Resequencing three candidate genes for major depressive disorder in a Dutch cohort
Verbeek, Eva C, Bevova, Marianna R, Bochdanovits, Zoltán, Rizzu, Patrizia, Bakker, Ingrid M C, Uithuisje, Tiny, De Geus, Eco J, Smit, Johannes H, Penninx, Brenda W, Boomsma, Dorret I, Hoogendijk, Witte J G, Heutink, Peter
Published in PloS one (21.11.2013)
Published in PloS one (21.11.2013)
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Direct chromosome-length haplotyping by single-cell sequencing
Porubský, David, Sanders, Ashley D, van Wietmarschen, Niek, Falconer, Ester, Hills, Mark, Spierings, Diana C J, Bevova, Marianna R, Guryev, Victor, Lansdorp, Peter M
Published in Genome research (01.11.2016)
Published in Genome research (01.11.2016)
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Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria
Nota, Benjamin, Struys, Eduard A., Pop, Ana, Jansen, Erwin E., Fernandez Ojeda, Matilde R., Kanhai, Warsha A., Kranendijk, Martijn, van Dooren, Silvy J.M., Bevova, Marianna R., Sistermans, Erik A., Nieuwint, Aggie W.M., Barth, Magalie, Ben-Omran, Tawfeg, Hoffmann, Georg F., de Lonlay, Pascale, McDonald, Marie T., Meberg, Alf, Muntau, Ania C., Nuoffer, Jean-Marc, Parini, Rossella, Read, Marie-Hélène, Renneberg, Axel, Santer, René, Strahleck, Thomas, van Schaftingen, Emile, van der Knaap, Marjo S., Jakobs, Cornelis, Salomons, Gajja S.
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
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Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1
Bettencourt, Conceição, de Yébenes, Justo García, López-Sendón, José Luis, Shomroni, Orr, Zhang, Xingqian, Qian, Shu-Bing, Bakker, Ingrid M. C., Heetveld, Sasja, Ros, Raquel, Quintáns, Beatriz, Sobrido, María-Jesús, Bevova, Marianna R., Jain, Shushant, Bugiani, Marianna, Heutink, Peter, Rizzu, Patrizia
Published in Cerebellum (London, England) (01.06.2015)
Published in Cerebellum (London, England) (01.06.2015)
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Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations
EINARSDOTTIR, Elisabet, BEVOVA, Marianna R, KURPPA, Kalle, KERE, Juha, MÄKI, Markku, WIJMENGA, Cisca, SAAVALAINEN, Päivi, ZHERNAKOVA, Alexandra, MONSUUR, Alienke, KOSKINEN, Lotta Le, VAN'T SLOT, Ruben, MULDER, Chris, MEARIN, M. Luisa, KORPONAY-SZABO, Ilma R, KAUKINEN, Katri
Published in European journal of human genetics : EJHG (01.06.2011)
Published in European journal of human genetics : EJHG (01.06.2011)
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Chromosome-Wise Dissection of the Genome of the Extremely Big Mouse Line DU6i
Bevova, Marianna R, Aulchenko, Yurii S, Aksu, Soner, Renne, Ulla, Brockmann, Gudrun A
Published in Genetics (Austin) (01.01.2006)
Published in Genetics (Austin) (01.01.2006)
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Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect
Wijmenga, Cisca, Monsuur, Alienke J, Bakker, Paul I W de, Alizadeh, Behrooz Z, Zhernakova, Alexandra, Bevova, Marianna R, Strengman, Eric, Franke, Lude, Slot, Ruben van't, Belzen, Martine J van, Lavrijsen, Ineke C M, Diosdado, Begoña, Daly, Mark J, Mulder, Chris J J, Mearin, M Luisa, Meijer, Jos W R, Meijer, Gerrit A, Oort, Erica van, Wapenaar, Martin C, Koeleman, Bobby P C
Published in Nature genetics (01.12.2005)
Published in Nature genetics (01.12.2005)
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Resequencing Three Candidate Genes for Major Depressive Disorder in a Dutch Cohort: e79921
Verbeek, Eva C, Bevova, Marianna R, Bochdanovits, Zoltan, Rizzu, Patrizia, Bakker, Ingrid MC, Uithuisje, Tiny, Geus, Eco JDe, Smit, Johannes H, Penninx, Brenda W, Boomsma, Dorret I
Published in PloS one (01.11.2013)
Published in PloS one (01.11.2013)
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