Iskani rezultati za avtorja

1

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

Izdano 1983

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2

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

Izdano 1989

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3

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

Izdano 1982

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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 professiona... od Adriana Kater‐Kuipers, Eline M. Bunnik, Inez D. de Beaufort, R. J. H. Galjaard

Izdano 2018

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5

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

Izdano 1987

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6

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

Izdano 1976

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7

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

Izdano 1999

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8

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

Izdano 2011

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9

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

Izdano 2021

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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 od M. C. de Wit, Malgorzata I. Srebniak, L. Govaerts, Diane Van Opstal, R. J. H. Galjaard, Attie T. J. I. Go

Izdano 2013

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11

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

Izdano 2005

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12

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

Izdano 1999

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13

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples od 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

Izdano 2008

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14

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome od 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

Izdano 1993

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15

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique od 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

Izdano 1997

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16

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

Izdano 1997

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17

Defective deacetylation of histone 4 K12 in human oocytes is associated with advanced maternal age and chromosome misalignment od 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

Izdano 2011

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18

The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents’ Experiences od 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

Izdano 2016

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19

Elevated plasma chitotriosidase activity in various lysosomal storage disorders od 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

Izdano 1995

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20

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

Izdano 2016

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Rezultati - H. Galjaard

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

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

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

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... od Adriana Kater‐Kuipers, Eline M. Bunnik, Inez D. de Beaufort, R. J. H. Galjaard

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

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

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

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

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

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

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

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

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples od 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

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome od 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

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique od 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

Defective deacetylation of histone 4 K12 in human oocytes is associated with advanced maternal age and chromosome misalignment od 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

Elevated plasma chitotriosidase activity in various lysosomal storage disorders od 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

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