检索结果 - Egbert Bakker

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  1. 1
    EAA/EMQN best practice guidelines for molecular diagnosis of y‐chromosomal microdeletions. State of the art 2004

    EAA/EMQN best practice guidelines for molecular diagnosis of y‐chromosomal microdeletions. State of the art 2004 由 Manuela Simoni, Egbert Bakker, Csilla Krausz

    出版 2004
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  2. 2
    Acromegaly: the disease, its impact on patients, and managing the burden of long-term treatment

    Acromegaly: the disease, its impact on patients, and managing the burden of long-term treatment 由 Daphne T. Adelman, Liebert, Nachtigall, Lamerson, Egbert Bakker

    出版 2013
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  3. 3
    The human genome project and the future of diagnostics, treatment, and prevention

    The human genome project and the future of diagnostics, treatment, and prevention 由 G-JB van Ommen, Egbert Bakker, JT den Dunnen

    出版 1999
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  4. 4
    Estimating Y Chromosome Specific Microsatellite Mutation Frequencies using Deep Rooting Pedigrees

    Estimating Y Chromosome Specific Microsatellite Mutation Frequencies using Deep Rooting Pedigrees 由 Évelyne Heyer, Jack Puymirat, Patrick Dieltjes, Egbert Bakker, Peter de Knijff

    出版 1997
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  5. 5
    Height Velocity Targets from the National Cooperative Growth Study for First-Year Growth Hormone Responses in Short Children

    Height Velocity Targets from the National Cooperative Growth Study for First-Year Growth Hormone Responses in Short Children 由 Egbert Bakker, James W. Frane, Henry Anhalt, Barbara Lippe, Ron G. Rosenfeld

    出版 2007
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  6. 6
    Laboratory guidelines for molecular diagnosis of Y‐chromosomal microdeletions

    Laboratory guidelines for molecular diagnosis of Y‐chromosomal microdeletions 由 Manuela Simoni, Egbert Bakker, Eurlings, Gert Matthijs, Enrico Moro, Müller, Vogt Vogt

    出版 1999
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  7. 7
    Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

    Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies 由 Stephen Abbs, Sylvie Tuffery‐Giraud, Egbert Bakker, Alessandra Ferlini, Thomas Sejersen, Clemens R. Mueller

    出版 2010
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  8. 8
    Facioscapulohumeral muscular dystrophy in the dutch population

    Facioscapulohumeral muscular dystrophy in the dutch population 由 G.W. Padberg, Rune R. Frants, Oebele F. Brouwer, Cisca Wijmenga, Egbert Bakker, Lodewijk A. Sandkuijl

    出版 1995
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  9. 9
    Characterization of Insulin-Like Growth Factor Binding Proteins from Human Breast Cancer Cells

    Characterization of Insulin-Like Growth Factor Binding Proteins from Human Breast Cancer Cells 由 Daisy De León, Darrell M. Wilson, Egbert Bakker, George Lamsom, Raymond L. Hintz, Ron G. Rosenfeld

    出版 1989
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  10. 10
    Zygosity determination in newborn twins using DNA variants.

    Zygosity determination in newborn twins using DNA variants. 由 Cathérine Derom, Egbert Bakker, Robert Vlietinck, R. Derom, Herman Van den Berghe, Michel Thiéry, P. Pearson

    出版 1985
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  11. 11
    Growth Response, Near-Adult Height, and Patterns of Growth and Puberty in Patients with Noonan Syndrome Treated with Growth Hormone

    Growth Response, Near-Adult Height, and Patterns of Growth and Puberty in Patients with Noonan Syndrome Treated with Growth Hormone 由 Alicia Romanò, Ken Dana, Egbert Bakker, D. Aaron Davis, Joanne Julius Hunold, Joan R. Jacobs, Barbara Lippe

    出版 2009
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  12. 12
    Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)

    Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb) 由 Ivy Jennes, Elena Pedrini, Monia Zuntini, Marina Mordenti, Sahila Balkassmi, Carla Asteggiano, Brett Casey, Egbert Bakker, Luca Sangiorgi, Wim Wuyts

    出版 2009
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  13. 13
    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 由 Stefan J. White, Geraldine R. Vink, Marjolein Kriek, Wim Wuyts, Jan Schouten, Egbert Bakker, Martijn H. Breuning, Johan T. den Dunnen

    出版 2004
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  14. 14
    Diagnostic guidelines for high-resolution melting curve (HRM) analysis: An interlaboratory validation of<i>BRCA1</i>mutation scanning using the 96-well LightScanner™

    Diagnostic guidelines for high-resolution melting curve (HRM) analysis: An interlaboratory validation of<i>BRCA1</i>mutation scanning using the 96-well LightScanner™ 由 Nienke van der Stoep, Chantal D.M. van Paridon, Tom Janssens, Petra Křenková, A. Štambergová, Milan Maçek, Gert Matthijs, Egbert Bakker

    出版 2009
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  15. 15
    Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

    Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. 由 Egbert Bakker, H Veenema, Johan T. den Dunnen, Christine Van Broeckhoven, P.M. Grootscholten, E. J. Bonten, G J van Ommen, P. Pearson

    出版 1989
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  16. 16
    An Extensive Analysis of Y-Chromosomal Microsatellite Haplotypes in Globally Dispersed Human Populations

    An Extensive Analysis of Y-Chromosomal Microsatellite Haplotypes in Globally Dispersed Human Populations 由 Manfred Kayser, Michael Krawczak, Laurent Excoffier, Patrick Dieltjes, Daniel Corach, Vincente Pascali, Christian Gehrig, Luigi F. Bernini, Jørgen Jespersen, Egbert Bakker, Lutz Roewer, Peter de Knijff

    出版 2001
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  17. 17
    Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion

    Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion 由 Jeroen Knijnenburg, Arie van Haeringen, Kerstin Hansson, Arjan C. Lankester, Margot J. M. Smit, René D.M. Belfroid, Egbert Bakker, Carla Rosenberg, Hans J. Tanke, Károly Szuhai

    出版 2007
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  18. 18
    Intronic variants in<i>BRCA1</i>and<i>BRCA2</i>that affect RNA splicing can be reliably selected by splice-site prediction programs

    Intronic variants in<i>BRCA1</i>and<i>BRCA2</i>that affect RNA splicing can be reliably selected by splice-site prediction programs 由 Maaike P.G. Vreeswijk, Jaco Kraan, Heleen M. van der Klift, Geraldine R. Vink, Cees J. Cornelisse, Juul Wijnen, Egbert Bakker, Christi J. van Asperen, Peter Devilee

    出版 2008
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  19. 19
    Hereditary Nonpolyposis Colorectal Cancer Families Not Complying with the Amsterdam Criteria Show Extremely Low Frequency of Mismatch-Repair-Gene Mutations

    Hereditary Nonpolyposis Colorectal Cancer Families Not Complying with the Amsterdam Criteria Show Extremely Low Frequency of Mismatch-Repair-Gene Mutations 由 Juul Wijnen, P. Meera Khan, Hans F. A. Vasen, Heleen van der Klift, Adri Mulder, Inge van Leeuwen‐Cornelisse, Egbert Bakker, Monique Losekoot, Pål Møller, Riccardo Fodde

    出版 1997
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  20. 20
    Hereditary frontotemporal dementia is linked to chromosome 17q21—q22: A genetic and clinicopathological study of three dutch families

    Hereditary frontotemporal dementia is linked to chromosome 17q21—q22: A genetic and clinicopathological study of three dutch families 由 Peter Heutink, M Stevens, Patrizia Rizzu, Egbert Bakker, J. M. Kros, Aad Tibben, Martinus F. Niermeijer, Cornelia M. van Duijn, B. A. Oostra, John C. van Swieten

    出版 1997
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