Search Results - Erik A. Sistermans

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  1. 1
    Calculating the fetal fraction for noninvasive prenatal testing based on genome‐wide nucleosome profiles

    Calculating the fetal fraction for noninvasive prenatal testing based on genome‐wide nucleosome profiles by Roy Straver, Cees B.M. Oudejans, Erik A. Sistermans, Marcel J. T. Reinders

    Published 2016
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  2. 2
    WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme

    WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme by Roy Straver, Erik A. Sistermans, Henne Holstege, Allerdien Visser, Cees B.M. Oudejans, Marcel J. T. Reinders

    Published 2013
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  3. 3
    CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

    CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations by Nike Stikkelbroeck, Lies H. Hoefsloot, Ilse J. de Wijs, Barto J. Otten, Ad R. Hermus, Erik A. Sistermans

    Published 2003
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  4. 4
    EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

    EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta by Fleur S van Dijk, Peter H. Byers, Raymond Dalgleish, Fransiska Malfait, Alessandra Maugeri, Marianne Rohrbach, Sofie Symoens, Erik A. Sistermans, Gerard Pals

    Published 2011
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  5. 5
    Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

    Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms by Mala Isrie, Yvonne Hendriks, N Gielissen, Erik A. Sistermans, Marjolein H. Willemsen, Hilde Peeters, Joris Vermeesch, Tjitske Kleefstra, Hilde Van Esch

    Published 2011
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  6. 6
    Fetal fraction evaluation in non-invasive prenatal screening (NIPS)

    Fetal fraction evaluation in non-invasive prenatal screening (NIPS) by Matthew S. Hestand, Mark Bessem, Peter van Rijn, Renée X. de Menezes, Daoud Sie, Ingrid Bakker, Elles M. J. Boon, Erik A. Sistermans, Marjan M. Weiss

    Published 2018
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  7. 7
    Imprinting Effect in Premature Ovarian Failure Confined to Paternally Inherited Fragile X Premutations

    Imprinting Effect in Premature Ovarian Failure Confined to Paternally Inherited Fragile X Premutations by Rubin D.L. Hundscheid, Erik A. Sistermans, Chris M.G. Thomas, Didi D.M. Braat, Huub Straatman, Lambertus A. Kiemeney, Ben A. Oostra, Arie P.T. Smits

    Published 2000
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  8. 8
    Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients

    Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients by Tamara Paff, Irsan Kooi, Youssef Moutaouakil, Elise Riesebos, Erik A. Sistermans, Hans Daniels, Janneke Weiss, Hans W.M. Niessen, Eric G. Haarman, Gerard Pals, Dimitra Micha

    Published 2018
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  9. 9
    International Society for Prenatal Diagnosis Position Statement: cell free (cf)<scp>DNA</scp> screening for Down syndrome in multiple pregnancies

    International Society for Prenatal Diagnosis Position Statement: cell free (cf)<scp>DNA</scp> screening for Down syndrome in multiple pregnancies by Glenn E. Palomaki, Rossa W. K. Chiu, Mark D. Pertile, Erik A. Sistermans, Yuval Yaron, Joris Vermeesch, Neeta L. Vora, Robert G. Best, Louise Wilkins‐Haug

    Published 2020
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  10. 10
    Detection of human cytomegalovirus cell‐free <scp>DNA</scp> in pregnant women with symptomatically infected fetuses: proof‐of‐concept study

    Detection of human cytomegalovirus cell‐free <scp>DNA</scp> in pregnant women with symptomatically infected fetuses: proof‐of‐concept study by Brigitte H. W. Faas, Tessa Meuleman, Galuh Astuti, A. Reuss, Kim Stol, Erik A. Sistermans, Jasper Linthorst, Esther van Leeuwen, Janette Rahamat‐Langendoen, Freke A. Wilmink

    Published 2025
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  11. 11
    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 by 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

    Published 1997
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  12. 12
    Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing

    Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing by Najim Ameziane, Daoud Sie, Stefan C. Dentro, Yavuz Ariyürek, Lianne Kerkhoven, Hans Joenje, Josephine C. Dorsman, Bauke Ylstra, Gilles Thomas, Erik A. Sistermans, Johan P. de Winter

    Published 2012
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  13. 13
    Comparing methods for fetal fraction determination and quality control of NIPT samples

    Comparing methods for fetal fraction determination and quality control of NIPT samples by Daphne M. van Beek, Roy Straver, Marjan M. Weiss, Elles M. J. Boon, Karin Huijsdens–van Amsterdam, Cees B.M. Oudejans, Marcel J. T. Reinders, Erik A. Sistermans

    Published 2017
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  14. 14
    Uptake of fetal aneuploidy screening after the introduction of the non‐invasive prenatal test: A national population‐based register study

    Uptake of fetal aneuploidy screening after the introduction of the non‐invasive prenatal test: A national population‐based register study by Karuna R. M. van der Meij, Maurike Dorothea de Groot-van der Mooren, Ellen W. S. Carbo, Mijntje J. Pieters, Wendy Rodenburg, Erik A. Sistermans, Martina C. Cornel, Lidewij Henneman

    Published 2021
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  15. 15
    Cerebrotendinous xanthomatosis: report of two Brazilian brothers

    Cerebrotendinous xanthomatosis: report of two Brazilian brothers by Marcos Christiano Lange, Viviane Flumignan Zétola, Hélio Afonso Ghizoni Teive, Rosana Hermínia Scola, Ana Paula Trentin, Jorge A. Zavala, Eduardo Rafael Pereira, Salmo Raskin, Lineu César Werneck, Erik A. Sistermans

    Published 2004
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  16. 16
    Smoothing waves in array CGH tumor profiles

    Smoothing waves in array CGH tumor profiles by Mark A. van de Wiel, Rebecca P. M. Brosens, Paul H.C. Eilers, Candy Kumps, Gerrit A. Meijer, Björn Menten, Erik A. Sistermans, Frank Speleman, Marieke E. Timmerman, Bauke Ylstra

    Published 2009
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  17. 17
    Erratum: Guidelines for diagnostic next-generation sequencing

    Erratum: Guidelines for diagnostic next-generation sequencing by Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik A. Sistermans, Marc Sturm, Marjan M. Weiss, Helger G. Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer

    Published 2016
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  18. 18
    Guidelines for diagnostic next-generation sequencing

    Guidelines for diagnostic next-generation sequencing by Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik A. Sistermans, Marc Sturm, Marjan M. Weiss, Helger G. Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer

    Published 2015
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  19. 19
    Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome

    Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome by Karin Huijsdens–van Amsterdam, Lieve Page‐Christiaens, Nicola Flowers, Michael Bonifacio, Katie M Battese Ellis, Ida Vogel, Else Marie Vestergaard, Javier Miguelez, Mário Henrique Burlacchini de Carvalho, Erik A. Sistermans, Mark D. Pertile

    Published 2018
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  20. 20
    Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant women

    Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant women by Ellis C. Becking, P Scheffer, Jens Henrichs, Caroline J. Bax, Neeltje Crombag, Marjan M. Weiss, Merryn Macville, Diane Van Opstal, Elles M. J. Boon, Erik A. Sistermans, Lidewij Henneman, Ewoud Schuit, Mireille N. Bekker

    Published 2023
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