Search Results - Stefan J. White

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  1. 1
    An alternative to FISH: detecting deletion and duplication carriers within 24 hours

    An alternative to FISH: detecting deletion and duplication carriers within 24 hours by Stefan J. White

    Published 2003
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  2. 2
    Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility

    Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility by Stuart Cantsilieris, Stefan J. White

    Published 2012
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  3. 3
    Molecular methods for genotyping complex copy number polymorphisms

    Molecular methods for genotyping complex copy number polymorphisms by Stuart Cantsilieris, Paul N. Baird, Stefan J. White

    Published 2012
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  4. 4
    Nine unknown rearrangements in 16p13.3 and 11p15.4 causing - and -thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification

    Nine unknown rearrangements in 16p13.3 and 11p15.4 causing - and -thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification by Cornelis L. Harteveld, Astrid Voskamp, Marion Phylipsen, Nicole Akkermans, Johan T. den Dunnen, Stefan J. White, Paola Giordano

    Published 2005
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  5. 5
    Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

    Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses by Stefan J. White, Geraldine R. Vink, Marjolein Kriek, Wim Wuyts, Jan Schouten, Egbert Bakker, Martijn H. Breuning, Johan T. den Dunnen

    Published 2004
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  6. 6
    Delayed Recognition of Disorders of Sex Development (DSD): A Missed Opportunity for Early Diagnosis of Malignant Germ Cell Tumors

    Delayed Recognition of Disorders of Sex Development (DSD): A Missed Opportunity for Early Diagnosis of Malignant Germ Cell Tumors by Remko Hersmus, Hans Stoop, Stefan J. White, Stenvert L. S. Drop, J. Wolter Oosterhuis, Luca Incrocci, Katja P. Wolffenbuttel, Leendert H. J. Looijenga

    Published 2012
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  7. 7
    Loss of maternal EED results in postnatal overgrowth

    Loss of maternal EED results in postnatal overgrowth by Lexie Prokopuk, Jessica M. Stringer, Craig R. White, Rolf H. A. M. Vossen, Stefan J. White, Ana S.A. Cohen, William T. Gibson, Patrick Western

    Published 2018
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  8. 8
    Diagnosis of genetic abnormalities in developmentally delayed patients: A new strategy combining MLPA and array‐CGH

    Diagnosis of genetic abnormalities in developmentally delayed patients: A new strategy combining MLPA and array‐CGH by Marjolein Kriek, Jeroen Knijnenburg, Stefan J. White, Carla Rosenberg, Johan T. den Dunnen, Gert‐Jan B. van Ommen, Hans J. Tanke, Martijn H. Breuning, Károly Szuhai

    Published 2007
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  9. 9
    Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

    Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase by Saskia A.J. Lesnik Oberstein, Marjolein Kriek, Stefan J. White, M.E. Kalf, Károly Szuhai, Johan T. den Dunnen, Martijn H. Breuning, Raoul C. M. Hennekam

    Published 2006
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  10. 10
    The identification of mitochondrial DNA variants in glioblastoma multiforme

    The identification of mitochondrial DNA variants in glioblastoma multiforme by Ka Yu Yeung, Adam Dickinson, Jacqueline F. Donoghue, Galina Polekhina, Stefan J. White, Dimitris K. Grammatopoulos, Matthew McKenzie, Terrance G. Johns, Justin C. St. John

    Published 2014
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  11. 11
    Deletion and duplication screening in the DMD gene using MLPA

    Deletion and duplication screening in the DMD gene using MLPA by Tanja Lalic, Rolf H. A. M. Vossen, Jordy Coffa, Jan P. Schouten, Marija Guć‐Šćekić, Danijela Radivojevic, M Djurisić, Martÿn H. Breuning, Stefan J. White, Johan T. den Dunnen

    Published 2005
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  12. 12
    A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

    A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development by Stefan J. White, Jacqueline Hewitt, Erin Turbitt, Yvonne van der Zwan, Remko Hersmus, Stenvert L. S. Drop, Peter Koopman, Vincent R. Harley, Martine Cools, Leendert H. J. Looijenga, Andrew Sinclair

    Published 2011
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  13. 13
    Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization

    Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization by Stefan J. White, M.E. Kalf, Qiang Liu, Michel P Villerius, Dieuwke Engelsma, Marjolein Kriek, Ellen Vollebregt, Egbert Bakker, Gert‐Jan B. van Ommen, Martijn H. Breuning, Johan T. den Dunnen

    Published 2002
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  14. 14
    Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing

    Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing by Henk P.J. Buermans, Rolf H. A. M. Vossen, Seyed Yahya Anvar, William G. Allard, Henk‐Jan Guchelaar, Stefan J. White, Johan T. den Dunnen, Jesse J. Swen, Tahar van der Straaten

    Published 2017
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  15. 15
    GILZ Overexpression Inhibits Endothelial Cell Adhesive Function through Regulation of NF-κB and MAPK Activity

    GILZ Overexpression Inhibits Endothelial Cell Adhesive Function through Regulation of NF-κB and MAPK Activity by Qiang Cheng, Huapeng Fan, Devi Ngo, Élaine Beaulieu, Patrick S.C. Leung, Camden Lo, Rosemary Burgess, Yvonne G. van der Zwan, Stefan J. White, Levon M. Khachigian, Michael J. Hickey, Eric F. Morand

    Published 2013
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  16. 16
    Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

    Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease by Jeroen Roelfsema, Stefan J. White, Yavuz Ariyürek, Deborah Bartholdi, Dunja Niedrist, Francesco Papadia, Carlos A. Bacino, Johan T. den Dunnen, Gert‐Jan B. van Ommen, Martijn H. Breuning, Raoul C. M. Hennekam, Dorien J.M. Peters

    Published 2005
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  17. 17
    Successful Long-Term Growth Hormone Therapy in a Girl with Haploinsufficiency of the Insulin-Like Growth Factor-I Receptor due to a Terminal 15q26.2->qter Deletion Detected by Multiplex Ligation Probe Amplification

    Successful Long-Term Growth Hormone Therapy in a Girl with Haploinsufficiency of the Insulin-Like Growth Factor-I Receptor due to a Terminal 15q26.2->qter Deletion Detected... by M.J.E. Walenkamp, Sabine M.P.F. de Muinck Keizer‐Schrama, Marianne de Mos, M.E. Kalf, Hermine A. van Duyvenvoorde, Annemieke M. Boot, Sarina G. Kant, Stefan J. White, Monique Losekoot, Johan T. den Dunnen, Marcel Karperien, Jan M. Wit

    Published 2008
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  18. 18
    Clinical and Biochemical Characteristics of a Male Patient with a Novel Homozygous STAT5b Mutation

    Clinical and Biochemical Characteristics of a Male Patient with a Novel Homozygous STAT5b Mutation by Sólrún Vidarsdóttir, M.J.E. Walenkamp, Alberto M. Pereira, Marcel Karperien, Jaap van Doorn, Hermine A. van Duyvenvoorde, Stefan J. White, Martijn H. Breuning, Ferdinand Roelfsema, M. Femke Kruithof, Jaap van Dissel, Riny Janssen, Jan M. Wit, Johannes A. Romijn

    Published 2006
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  19. 19
    Skewed X-inactivation is common in the general female population

    Skewed X-inactivation is common in the general female population by Ekaterina Shvetsova, Alina A. Sofronova, Ramin Monajemi, Kristina Gagalova, Harmen H. M. Draisma, Stefan J. White, Gijs W.E. Santen, Susana M. Chuva de Sousa Lopes, Bastiaan T. Heijmans, Joyce B. J. van Meurs, Rick Jansen, Lude Franke, Szymon M. Kiełbasa, Johan T. den Dunnen, Peter A.C. ‘t Hoen

    Published 2018
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  20. 20
    Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

    Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination by Alexander Pearlman, Johnny Loke, Cédric Le Caignec, Stefan J. White, Lisa M. K. Chin, Andrew Friedman, Nick Warr, John Willan, David G. Brauer, Charles B Farmer, Eric D. Brooks, Carole Oddoux, Bridget Riley‐Gillis, Shahin Shajahan, Giovanna Camerino, Tessa Homfray, Andrew H. Crosby, Jennifer Couper, Albert David, Andy Greenfield, Andrew Sinclair, Harry Ostrer

    Published 2010
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