Výsledky vyhledávání - Robert‐Jan H. Galjaard

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  1. 1
    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 Autor Malgorzata I. Srebniak, Marjan Boter, Grétel Oudesluijs, Marieke Joosten, Lutgarde Govaerts, Diane Van Opstal, Robert‐Jan H. Galjaard

    Vydáno 2011
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  2. 2
    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 Autor Geerke M. Eggenhuizen, Attie T. J. I. Go, Maria P. H. Koster, Esther B. Baart, Robert‐Jan H. Galjaard

    Vydáno 2021
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  3. 3
    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 Autor 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

    Vydáno 2008
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  4. 4
    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 Autor 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

    Vydáno 1997
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  5. 5
    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 Autor 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

    Vydáno 2016
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  6. 6
    Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs

    Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs Autor Malgorzata I. Srebniak, Karin E. M. Diderich, Marieke Joosten, Lutgarde Govaerts, Jeroen Knijnenburg, Femke At de Vries, Marjan Boter, Debora Lont, Maarten F. C. M. Knapen, M. C. de Wit, Attie T. J. I. Go, Robert‐Jan H. Galjaard, Diane Van Opstal

    Vydáno 2015
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  7. 7
    Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

    Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities Autor Malgorzata I. Srebniak, Marjan Boter, Grétel Oudesluijs, Titia E. Cohen‐Overbeek, Lutgarde Govaerts, Karin E. M. Diderich, Renske Oegema, Maarten F. C. M. Knapen, Ingrid M.B.H. van de Laar, Marieke Joosten, Diane Van Opstal, Robert‐Jan H. Galjaard

    Vydáno 2012
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  8. 8
    PARK7, a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, on Chromosome 1p36

    PARK7, a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, on Chromosome 1p36 Autor Cornelia M. van Duijn, Marieke Dekker, Vincenzo Bonifati, Robert‐Jan H. Galjaard, Jeanine J. Houwing‐Duistermaat, Pieter J.L.M. Snijders, Leon Testers, Guido J. Breedveld, M.W.I.M. Horstink, L. Sandkuijl, John C. van Swieten, Ben A. Oostra, Peter Heutink

    Vydáno 2001
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  9. 9
    Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives

    Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives Autor Karuna R. M. van der Meij, Annabel Njio, Linda Martin, Janneke T. Gitsels-van der Wal, Mireille N. Bekker, Elsbeth H. van Vliet‐Lachotzki, A. Jeanine E. M. van der Ven, Adriana Kater‐Kuipers, Daniëlle R. M. Timmermans, Erik A. Sistermans, Robert‐Jan H. Galjaard, Lidewij Henneman

    Vydáno 2021
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  10. 10
    A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium

    A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium Autor Lore Lannoo, Karuna R. M. van der Meij, Mireille N. Bekker, Luc De Catte, Sarah Deckers, Koenraad Devriendt, Nele Roggen, Robert‐Jan H. Galjaard, Janneke T. Gitsels-van der Wal, Merryn Macville, Linda Martin, Erik A. Sistermans, Kristel Van Calsteren, Joachim Van Keirsbilck, Neeltje Crombag, Lidewij Henneman

    Vydáno 2023
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  11. 11
    Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

    Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact Autor Dick Oepkes, Godelieve C.M.L. Page‐Christiaens, Caroline J. Bax, Mireille N. Bekker, Catia M. Bilardo, Elles M. J. Boon, G. Heleen Schuring‐Blom, A. Coumans, Brigitte H. W. Faas, Robert‐Jan H. Galjaard, Attie T. J. I. Go, Lidewij Henneman, Merryn Macville, Eva Pajkrt, Ron F. Suijkerbuijk, Karin Huijsdens–van Amsterdam, Diane Van Opstal, E. J. T. Verweij, Marjan M. Weiss, Erik A. Sistermans

    Vydáno 2016
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  12. 12
    Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study

    Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study Autor Catharina J. Heesterbeek, Sietse Aukema, Robert‐Jan H. Galjaard, Elles M. J. Boon, Malgorzata I. Srebniak, Katelijne Bouman, Brigitte H. W. Faas, Lutgarde Govaerts, Mariëtte J.V. Hoffer, Nicolette S. den Hollander, Klaske D. Lichtenbelt, Merel C. van Maarle, Lisanne van Prooyen Schuurman, Maartje C. van Rij, G. Heleen Schuring‐Blom, Servi J.C. Stevens, Gita Tan-Sindhunata, Masoud Zamani Esteki, Christine de Die‐Smulders, Vivianne C. G. Tjan‐Heijnen, Lidewij Henneman, Erik A. Sistermans, Merryn Macville

    Vydáno 2022
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  13. 13
    Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

    Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study Autor Diane Van Opstal, Merel C. van Maarle, Klaske D. Lichtenbelt, Marjan M. Weiss, Heleen Schuring‐Blom, Shama L. Bhola, Mariëtte J.V. Hoffer, Karin Huijsdens–van Amsterdam, Merryn Macville, Angelique J. A. Kooper, Brigitte H. W. Faas, Lutgarde Govaerts, Gita Tan-Sindhunata, Nicolette S. den Hollander, Ilse Feenstra, Robert‐Jan H. Galjaard, Dick Oepkes, Stijn A.I. Ghesquiere, Rutger W. W. Brouwer, Lean Beulen, Sander Bollen, Martin Elferink, Roy Straver, Lidewij Henneman, Godelieve C.M.L. Page‐Christiaens, Erik A. Sistermans

    Vydáno 2017
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  14. 14
    Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

    Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study Autor Lisanne van Prooyen Schuurman, Erik A. Sistermans, Diane Van Opstal, Lidewij Henneman, Mireille N. Bekker, Caroline J. Bax, Mijntje J. Pieters, Katelijne Bouman, Sonja de Munnik, Nicolette S. den Hollander, Karin E. M. Diderich, Brigitte H. W. Faas, Ilse Feenstra, Attie T. J. I. Go, Mariëtte J.V. Hoffer, Marieke Joosten, Fenne L. Komdeur, Klaske D. Lichtenbelt, Maria Lombardi, Marike Polak, Fernanda Sarquis Jehee, Heleen Schuring‐Blom, Servi J.C. Stevens, Malgorzata I. Srebniak, Ron F. Suijkerbuijk, Gita Tan-Sindhunata, Karuna R. M. van der Meij, Merel C. van Maarle, Vivian Vernimmen, Shama L. van Zelderen‐Bhola, Nicolien T. van Ravesteyn, Maarten F. C. M. Knapen, Merryn Macville, Robert‐Jan H. Galjaard

    Vydáno 2022
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  15. 15
    TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

    TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands Autor Karuna R. M. van der Meij, Erik A. Sistermans, Merryn Macville, Servi J.C. Stevens, Caroline J. Bax, Mireille N. Bekker, Caterina M. Bilardo, Elles M. J. Boon, Marjan Boter, Karin E. M. Diderich, Christine de Die‐Smulders, L. Duin, Brigitte H. W. Faas, Ilse Feenstra, Monique C. Haak, Mariëtte J.V. Hoffer, Nicolette S. den Hollander, Iris H.I.M. Hollink, Fernanda Sarquis Jehee, Maarten F. C. M. Knapen, Angelique J. A. Kooper, Irene M. van Langen, Klaske D. Lichtenbelt, Ingeborg H. Linskens, Merel C. van Maarle, Dick Oepkes, Mijntje J. Pieters, G. Heleen Schuring‐Blom, Esther Sikkel, Birgit Sikkema‐Raddatz, Dominique Smeets, Malgorzata I. Srebniak, Ron F. Suijkerbuijk, Gita Tan-Sindhunata, A. Jeanine E. M. van der Ven, Shama L. van Zelderen‐Bhola, Lidewij Henneman, Robert-Jan H. Galjaard, Diane Van Opstal, Marjan M. Weiss

    Vydáno 2019
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