Ngā hua rapu - 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. mā A. T. Hoogeveen, F.W. Verheijen, H. Galjaard

    I whakaputaina 1983
    Whiwhi kuputuhi katoa
    Artigo
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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 mā Grazia M.S. Mancini, Hugo R. de Jonge, H. Galjaard, F.W. Verheijen

    I whakaputaina 1989
    Whiwhi kuputuhi katoa
    Artigo
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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. mā Alessandra d’Azzo, A. T. Hoogeveen, Arnold Reuser, Douglas N. Robinson, H. Galjaard

    I whakaputaina 1982
    Whiwhi kuputuhi katoa
    Artigo
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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... mā Adriana Kater‐Kuipers, Eline M. Bunnik, Inez D. de Beaufort, R. J. H. Galjaard

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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. mā Arnold Reuser, Marian A. Kroos, Rob Willemsen, Dallas M. Swallow, J. M. Tager, H. Galjaard

    I whakaputaina 1987
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Prenatal diagnosis of genetic disorders.

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

    I whakaputaina 1976
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Filippo Tamanini, Leontine van Unen, Cathy Bakker, Nicoletta Sacchi, H. Galjaard, Ben A. Oostra, A. T. Hoogeveen

    I whakaputaina 1999
    Whiwhi kuputuhi katoa
    Artigo
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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 mā Malgorzata I. Srebniak, Marjan Boter, Grétel Oudesluijs, Marieke Joosten, Lutgarde Govaerts, Diane Van Opstal, Robert‐Jan H. Galjaard

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Geerke M. Eggenhuizen, Attie T. J. I. Go, Maria P. H. Koster, Esther B. Baart, Robert‐Jan H. Galjaard

    I whakaputaina 2021
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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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 mā M. C. de Wit, Malgorzata I. Srebniak, L. Govaerts, Diane Van Opstal, R. J. H. Galjaard, Attie T. J. I. Go

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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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 mā Esther B. Baart, Elena Martini, Irene van den Berg, N.S. Macklon, R-J.H. Galjaard, Bart C.J.M. Fauser, Diane Van Opstal

    I whakaputaina 2005
    Whiwhi kuputuhi katoa
    Artigo
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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 mā Filippo Tamanini, Carola Bontekoe, C.E. Bakker, Leontine van Unen, Burcu Anar, Rob Willemsen, Minoru Yoshida, H. Galjaard, Ben A. Oostra, A. T. Hoogeveen

    I whakaputaina 1999
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2008
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 1993
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 1997
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 1997
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Carta
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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 mā 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

    I whakaputaina 2011
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  19. 19
    Elevated plasma chitotriosidase activity in various lysosomal storage disorders

    Elevated plasma chitotriosidase activity in various lysosomal storage disorders mā 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

    I whakaputaina 1995
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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