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Refinado por: Nome da Publicação: European Journal of Human Genetics remover
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1
Patient mutations alter ATRX targeting to PML nuclear bodies
Patient mutations alter ATRX targeting to PML nuclear bodies
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Patient mutations alter ATRX targeting to PML nuclear bodies

BERUBE, Nathalie G ; HEALY, Jasmine ; MEDINA, Chantal F ; SHAOBO WU ; HODGSON, Todd ; JAGLA, Magdalena ; PICKETTS, David J

European journal of human genetics : EJHG, 2008-02, Vol.16 (2), p.192-201 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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2
High serum endostatin levels in Down syndrome implications for improved treatment and prevention of solid tumours
High serum endostatin levels in Down syndrome implications for improved treatment and prevention of solid tumours
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High serum endostatin levels in Down syndrome implications for improved treatment and prevention of solid tumours

Todd S. Zorick Zan Mustacchi; Sílvia Yumi Bando; Mayana Zatz; Carlos Alberto Moreira-Filho; Björn Olsen; Maria Rita Passos-Bueno

European Journal of Human Genetics v. 9, p. 811-814, 2001

Hants England 2001

Item não circula. Consulte sua biblioteca.(Acessar)

3
High serum endostatin levels in Down syndrome implications for improved treatment and prevention of solid tumours
High serum endostatin levels in Down syndrome implications for improved treatment and prevention of solid tumours
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High serum endostatin levels in Down syndrome implications for improved treatment and prevention of solid tumours

Todd S. Zorick Zan Mustacchi; Sílvia Yumi Bando; Mayana Zatz; Carlos Alberto Moreira-Filho; Björn Olsen; Maria Rita Passos-Bueno

European Journal of Human Genetics v. 9, p. 811-814, 2001

Hants England 2001

Item não circula. Consulte sua biblioteca.(Acessar)

4
Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'
Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'
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Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'

Deelen, Patrick ; Menelaou, Androniki ; van Leeuwen, Elisabeth M ; Kanterakis, Alexandros ; van Dijk, Freerk ; Medina-Gomez, Carolina ; Francioli, Laurent C ; Hottenga, Jouke Jan ; Karssen, Lennart C ; Estrada, Karol ; Kreiner-Møller, Eskil ; Rivadeneira, Fernando ; van Setten, Jessica ; Gutierrez-Achury, Javier ; Westra, Harm-Jan ; Franke, Lude ; van Enckevort, David ; Dijkstra, Martijn ; Byelas, Heorhiy ; van Duijn, Cornelia M ; de Bakker, Paul I W ; Wijmenga, Cisca ; Swertz, Morris A

European journal of human genetics : EJHG, 2014-11, Vol.22 (11), p.1321-1326 [Periódico revisado por pares]

England: Nature Publishing Group

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5
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
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The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

Smith, Bradley N ; Newhouse, Stephen ; Shatunov, Aleksey ; Vance, Caroline ; Topp, Simon ; Johnson, Lauren ; Miller, Jack ; Lee, Younbok ; Troakes, Claire ; Scott, Kirsten M ; Jones, Ashley ; Gray, Ian ; Wright, Jamie ; Hortobágyi, Tibor ; Al-Sarraj, Safa ; Rogelj, Boris ; Powell, John ; Lupton, Michelle ; Lovestone, Simon ; Sapp, Peter C ; Weber, Markus ; Nestor, Peter J ; Schelhaas, Helenius J ; Asbroek, Anneloor Alm Ten ; Silani, Vincenzo ; Gellera, Cinzia ; Taroni, Franco ; Ticozzi, Nicola ; Van den Berg, Leonard ; Veldink, Jan ; Van Damme, Phillip ; Robberecht, Wim ; Shaw, Pamela J ; Kirby, Janine ; Pall, Hardev ; Morrison, Karen E ; Morris, Alex ; de Belleroche, Jacqueline ; Vianney de Jong, J M B ; Baas, Frank ; Andersen, Peter M ; Landers, John ; Brown, Jr, Robert H ; Weale, Michael E ; Al-Chalabi, Ammar ; Shaw, Christopher E

European journal of human genetics : EJHG, 2013-01, Vol.21 (1), p.102-108 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Genome-wide association scan of neuropathic pain symptoms post total joint replacement highlights a variant in the protein-kinase C gene
Genome-wide association scan of neuropathic pain symptoms post total joint replacement highlights a variant in the protein-kinase C gene
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Genome-wide association scan of neuropathic pain symptoms post total joint replacement highlights a variant in the protein-kinase C gene

Warner, Sophie C ; van Meurs, Joyce Bj ; Schiphof, Dieuwke ; Bierma-Zeinstra, Sita M ; Hofman, Albert ; Uitterlinden, Andre G ; Richardson, Helen ; Jenkins, Wendy ; Doherty, Michael ; Valdes, Ana M

European journal of human genetics : EJHG, 2017-04, Vol.25 (4), p.446-451 [Periódico revisado por pares]

England: Nature Publishing Group

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7
A novel locus for episodic ataxia:UBR4 the likely candidate
A novel locus for episodic ataxia:UBR4 the likely candidate
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A novel locus for episodic ataxia:UBR4 the likely candidate

Conroy, Judith ; McGettigan, Paul ; Murphy, Raymond ; Webb, David ; Murphy, Sinéad M ; McCoy, Blathnaid ; Albertyn, Christine ; McCreary, Dara ; McDonagh, Cara ; Walsh, Orla ; Lynch, Sallyann ; Ennis, Sean

European journal of human genetics : EJHG, 2014-04, Vol.22 (4), p.505-510 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability
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Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability

Torrico, Bàrbara ; Fernàndez-Castillo, Noèlia ; Hervás, Amaia ; Milà, Montserrat ; Salgado, Marta ; Rueda, Isabel ; Buitelaar, Jan K ; Rommelse, Nanda ; Oerlemans, Anoek M ; Bralten, Janita ; Freitag, Christine M ; Reif, Andreas ; Battaglia, Agatino ; Mazzone, Luigi ; Maestrini, Elena ; Cormand, Bru ; Toma, Claudio

European journal of human genetics : EJHG, 2015-12, Vol.23 (12), p.1694-1701 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Genome-wide association study confirms extant PD risk loci among the Dutch
Genome-wide association study confirms extant PD risk loci among the Dutch
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Genome-wide association study confirms extant PD risk loci among the Dutch

SIMON-SANCHEZ, Javier ; VAN HILTEN, Jacobus J ; BLOEM, Bas ; VAN DIJK, Karin D ; RIVADENEIRA, Fernando ; HOFMAN, Albert ; UITTERLINDEN, André G ; RIZZU, Patrizia ; BOCHDANOVITS, Zoltan ; SINGLETON, Andrew B ; HEUTINK, Peter ; VAN DE WARRENBURG, Bart ; POST, Bart ; BERENDSE, Henk W ; AREPALLI, Sampath ; HERNANDEZ, Dena G ; DE BIE, Rob Ma ; VELSEBOER, Daan ; SCHEFFER, Hans

European journal of human genetics : EJHG, 2011-06, Vol.19 (6), p.655-661 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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10
Missing heritability: is the gap closing? An analysis of 32 complex traits in the Lifelines Cohort Study
Missing heritability: is the gap closing? An analysis of 32 complex traits in the Lifelines Cohort Study
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Missing heritability: is the gap closing? An analysis of 32 complex traits in the Lifelines Cohort Study

Nolte, Ilja M ; van der Most, Peter J ; Alizadeh, Behrooz Z ; de Bakker, Paul Iw ; Boezen, H Marike ; Bruinenberg, Marcel ; Franke, Lude ; van der Harst, Pim ; Navis, Gerjan ; Postma, Dirkje S ; Rots, Marianne G ; Stolk, Ronald P ; Swertz, Morris A ; Wolffenbuttel, Bruce Hr ; Wijmenga, Cisca ; Snieder, Harold

European journal of human genetics : EJHG, 2017-06, Vol.25 (7), p.877-885 [Periódico revisado por pares]

England: Nature Publishing Group

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