Søgeresultater - H. Galjaard

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  1. 1
    The relation between human lysosomal beta-galactosidase and its protective protein.

    The relation between human lysosomal beta-galactosidase and its protective protein. af A. T. Hoogeveen, F.W. Verheijen, H. Galjaard

    Udgivet 1983
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  2. 2
    Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane

    Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane af Grazia M.S. Mancini, Hugo R. de Jonge, H. Galjaard, F.W. Verheijen

    Udgivet 1989
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  3. 3
    Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

    Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man. af Alessandra d’Azzo, A. T. Hoogeveen, Arnold Reuser, Douglas N. Robinson, H. Galjaard

    Udgivet 1982
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  4. 4
    Limits to the scope of non-invasive prenatal testing (NIPT): an analysis of the international ethical framework for prenatal screening and an interview study with Dutch professionals

    Limits to the scope of non-invasive prenatal testing (NIPT): an analysis of the international ethical framework for prenatal screening and an interview study with Dutch professiona... af Adriana Kater‐Kuipers, Eline M. Bunnik, Inez D. de Beaufort, R. J. H. Galjaard

    Udgivet 2018
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  5. 5
    Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.

    Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts. af Arnold Reuser, Marian A. Kroos, Rob Willemsen, Dallas M. Swallow, J. M. Tager, H. Galjaard

    Udgivet 1987
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  6. 6
    Prenatal diagnosis of genetic disorders.

    Prenatal diagnosis of genetic disorders. af Martinus F. Niermeijer, E. S. Sachs, M Jahodova, C. Tichelaar-Klepper, W. J. Kleijer, H. Galjaard

    Udgivet 1976
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  7. 7
    Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P

    Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P af Filippo Tamanini, Leontine van Unen, Cathy Bakker, Nicoletta Sacchi, H. Galjaard, Ben A. Oostra, A. T. Hoogeveen

    Udgivet 1999
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  8. 8
    Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow

    Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow af Malgorzata I. Srebniak, Marjan Boter, Grétel Oudesluijs, Marieke Joosten, Lutgarde Govaerts, Diane Van Opstal, Robert‐Jan H. Galjaard

    Udgivet 2011
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  9. 9
    Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature

    Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature af Geerke M. Eggenhuizen, Attie T. J. I. Go, Maria P. H. Koster, Esther B. Baart, Robert‐Jan H. Galjaard

    Udgivet 2021
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  10. 10
    Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature

    Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature af M. C. de Wit, Malgorzata I. Srebniak, L. Govaerts, Diane Van Opstal, R. J. H. Galjaard, Attie T. J. I. Go

    Udgivet 2013
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  11. 11
    Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF

    Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF af Esther B. Baart, Elena Martini, Irene van den Berg, N.S. Macklon, R-J.H. Galjaard, Bart C.J.M. Fauser, Diane Van Opstal

    Udgivet 2005
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  12. 12
    Different Targets for the Fragile X-Related Proteins Revealed by Their Distinct Nuclear Localizations

    Different Targets for the Fragile X-Related Proteins Revealed by Their Distinct Nuclear Localizations af Filippo Tamanini, Carola Bontekoe, C.E. Bakker, Leontine van Unen, Burcu Anar, Rob Willemsen, Minoru Yoshida, H. Galjaard, Ben A. Oostra, A. T. Hoogeveen

    Udgivet 1999
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  13. 13
    Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples

    Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples af Diane Van Opstal, Marjan Boter, Daniëlle de Jong, Cardi van den Berg, Hennie T. Brüggenwirth, Hajo I. J. Wildschut, Annelies de Klein, Robert‐Jan H. Galjaard

    Udgivet 2008
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  14. 14
    Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

    Characterization and localization of the FMR-1 gene product associated with fragile X syndrome af Coleta Verheij, Cathy Bakker, Esther de Graaff, J. L. M. Keulemans, Rob Willemsen, Annemieke J.M.H. Verkerk, H. Galjaard, Arnold Reuser, A. T. Hoogeveen, Ben A. Oostra

    Udgivet 1993
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  15. 15
    Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique

    Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique af Rob Willemsen, Arie Smits, Serieta Mohkamsing, H. van Beerendonk, Anton de Haan, Bert de Vries, Ans van den Ouweland, Erik A. Sistermans, H. Galjaard, B. A. Oostra

    Udgivet 1997
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  16. 16
    The E6–AP Ubiquitin–Protein Ligase (<i>UBE3A</i>) Gene Is Localized within a Narrowed Angelman Syndrome Critical Region

    The E6–AP Ubiquitin–Protein Ligase (<i>UBE3A</i>) Gene Is Localized within a Narrowed Angelman Syndrome Critical Region af James S. Sutcliffe, Yong‐hui Jiang, Robert‐Jan H. Galjaard, Toshinobu Matsuura, Ping Fang, Takeo Kubota, Susan L. Christian, Jan Bressler, B.M. Cattanach, David H. Ledbetter, Arthur L. Beaudet

    Udgivet 1997
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  17. 17
    Defective deacetylation of histone 4 K12 in human oocytes is associated with advanced maternal age and chromosome misalignment

    Defective deacetylation of histone 4 K12 in human oocytes is associated with advanced maternal age and chromosome misalignment af I. M. van den Berg, C. Eleveld, M. van der Hoeven, Erwin Birnie, Eric A.P. Steegers, R. J. H. Galjaard, Joop S.E. Laven, J. Hikke van Doorninck

    Udgivet 2011
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  18. 18
    The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents’ Experiences

    The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents’ Experiences af Sanne Steen, Sam Riedijk, J. Verhagen‐Visser, L. Govaerts, Malgorzata I. Srebniak, Diane Van Opstal, Marieke Joosten, Maarten F. C. M. Knapen, Aad Tibben, Karin E. M. Diderich, R. J. H. Galjaard

    Udgivet 2016
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  19. 19
    Elevated plasma chitotriosidase activity in various lysosomal storage disorders

    Elevated plasma chitotriosidase activity in various lysosomal storage disorders af Yufeng Guo, He Wang, A. M. Boer, Ron A. Wevers, A M de Bruijn, J.E.M. Groener, Carla E. M. Hollak, Johannes M. F. G. Aerts, H. Galjaard, O. P. van Diggelen

    Udgivet 1995
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  20. 20
    False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review

    False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review af Diane Van Opstal, Malgorzata I. Srebniak, Joke Polak, Femke de Vries, Lutgarde Govaerts, Marieke Joosten, Attie T. J. I. Go, Maarten F. C. M. Knapen, Cardi van den Berg, Karin E. M. Diderich, Robert-Jan H. Galjaard

    Udgivet 2016
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