Search Results - Marjan M. Weiss

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  1. 1
    Characterization of the elastic properties of the nuclear envelope

    Characterization of the elastic properties of the nuclear envelope by Amy C. Rowat, Leonard J. Foster, Mogens M. Nielsen, Marjan M. Weiss, John H. Ipsen

    Published 2005
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  2. 2
    Genomic Alterations in Primary Gastric Adenocarcinomas Correlate with Clinicopathological Characteristics and Survival

    Genomic Alterations in Primary Gastric Adenocarcinomas Correlate with Clinicopathological Characteristics and Survival by Marjan M. Weiss, Ernst J. Kuipers, Cindy Postma, Antoine M. Snijders, Daniel Pinkel, S.G.M. Meuwissen, Donna G. Albertson, Gerrit A. Meijer

    Published 2004
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  3. 3
    Comparative genomic hybridisation

    Comparative genomic hybridisation by Marjan M. Weiss, Mario A. Hermsen, Gerrit A. Meijer, Nicole C.T. van Grieken, Jan P. A. Baak, Ernst J. Kuipers, P. J. van Diest

    Published 1999
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  4. 4
    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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  5. 5
    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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  6. 6
    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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  7. 7
    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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  8. 8
    Colorectal adenoma to carcinoma progression follows multiple pathways of chromosomal instability

    Colorectal adenoma to carcinoma progression follows multiple pathways of chromosomal instability by Mario Hermsen, Cindy Postma, Jan P. Baak, Marjan M. Weiss, Anna Rapallo, Andrea Sciutto, Guido M.J.M. Roemen, Jan‐Willem Arends, Richard D. Williams, Walter Giaretti, A. de Goeij, Gerrit A. Meijer

    Published 2002
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  9. 9
    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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  10. 10
    Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation

    Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation by Xiaoyan Ge, Henry Gong, Kevin Dumas, Jessica Litwin, Joanna J. Phillips, Quinten Waisfisz, Marjan M. Weiss, Yvonne Hendriks, Kyra E. Stuurman, Stanley F. Nelson, Wayne W. Grody, Hane Lee, Pui‐Yan Kwok, Joseph T.C. Shieh

    Published 2016
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  11. 11
    Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

    Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma by Jean‐Pierre Bayley, Ivonne van Minderhout, Marjan M. Weiss, Jeroen C. Jansen, P. H. N. Oomen, Fred H. Menko, Barbara Pasini, Barbara Ferrando, Nora Wong, Lesley Alpert, Rosie S. Williams, Edward Blair, Peter Devilee, Peter E.M. Taschner

    Published 2006
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  12. 12
    Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories

    Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories by Marjan M. Weiss, Bert van der Zwaag, Jan D.H. Jongbloed, Maartje J. Vogel, Hennie T. Brüggenwirth, Ronald H. Lekanne Deprez, Olaf R.F. Mook, Claudia Ruivenkamp, Marjon A. van Slegtenhorst, Arthur van den Wijngaard, Quinten Waisfisz, Marcel Nelen, Nienke van der Stoep

    Published 2013
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  13. 13
    Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

    Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence by Maria B. Tan-Sindhunata, Inge B. Mathijssen, Margriet Smit, Frank Baas, Johanna I. de Vries, J. Patrick van der Voorn, Irma Kluijt, Marleen A. Hagen, Eveline W Blom, Erik A. Sistermans, Hanne Meijers‐Heijboer, Quinten Waisfisz, Marjan M. Weiss, Alexander J. Groffen

    Published 2014
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  14. 14
    <i>SMAD2</i>Mutations Are Associated with Arterial Aneurysms and Dissections

    <i>SMAD2</i>Mutations Are Associated with Arterial Aneurysms and Dissections by Dimitra Micha, Dongchuan Guo, Yvonne Hilhorst‐Hofstee, Fop van Kooten, Dian Atmaja, Eline Overwater, Ferdy Kurniawan Cayami, Ellen S. Regalado, R. Van Uffelen, Hanka Venselaar, Sultana MH Faradz, Gerrit Vriend, Marjan M. Weiss, Erik A. Sistermans, Alessandra Maugeri, Dianna M. Milewicz, Gerard Pals, Fleur S van Dijk

    Published 2015
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  15. 15
    Low penetrance of a SDHB mutation in a large Dutch paraganglioma family

    Low penetrance of a SDHB mutation in a large Dutch paraganglioma family by Frederik J. Hes, Marjan M. Weiss, Sanne A Woortman, Noel F.C.C. de Miranda, Patrick A van Bunderen, Bert A. Bonsing, Marcel P. M. Stokkel, Hans Morreau, Johannes A. Romijn, Jeroen C. Jansen, A. H. J. T. Vriends, Jean‐Pierre Bayley, Eleonora P.M. Corssmit

    Published 2010
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  16. 16
    HiFi long-read genomes for difficult-to-detect, clinically relevant variants

    HiFi long-read genomes for difficult-to-detect, clinically relevant variants by Wolfram Höps, Marjan M. Weiss, Ronny Derks, Jordi Corominas Galbany, Amber den Ouden, Simone van den Heuvel, Raoul Timmermans, Jos G.A. Smits, Tom Mokveld, Egor Dolzhenko, Xiao Chen, Arthur van den Wijngaard, Michael A. Eberle, Helger G. Yntema, Alexander Hoischen, Christian Gilissen, Lisenka E.L.M. Vissers

    Published 2025
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  17. 17
    De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

    De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures by Susanne Horn, Margaret Au, Lina Basel‐Vanagaite, Pınar Bayrak‐Toydemir, Alexander Chapin, Lior Cohen, Mariet W. Elting, John M. Graham, Claudia Gonzaga‐Jauregui, Osnat Konen, Max Holzer, Johannes R. Lemke, Christine E. Miller, Linda K. Rey, Nicole I. Wolf, Marjan M. Weiss, Quinten Waisfisz, Ghayda Mirzaa, Dagmar Wieczorek, Heinrich Sticht, Rami Abou Jamra

    Published 2019
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  18. 18
    Characterization of pathogenic SORL1 genetic variants for association with Alzheimer’s disease: a clinical interpretation strategy

    Characterization of pathogenic SORL1 genetic variants for association with Alzheimer’s disease: a clinical interpretation strategy by Henne Holstege, Sven J. van der Lee, Marc Hulsman, Tsz Hang Wong, Jeroen van Rooij, Marjan M. Weiss, Eva Louwersheimer, Frank J. Wolters, Najaf Amin, André G. Uitterlinden, Albert Hofman, M. Arfan Ikram, John C. van Swieten, Hanne Meijers‐Heijboer, Wiesje M. van der Flier, Marcel J. T. Reinders, Cornelia M. van Duijn, Philip Scheltens

    Published 2017
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  19. 19
    Circulating tumor DNA detection after neoadjuvant treatment and surgery predicts recurrence in patients with early-stage and locally advanced rectal cancer

    Circulating tumor DNA detection after neoadjuvant treatment and surgery predicts recurrence in patients with early-stage and locally advanced rectal cancer by Lisa S.M. Hofste, Maartje J. Geerlings, Daniel von Rhein, Heidi Rütten, A. Helen Westenberg, Marjan M. Weiss, Christian Gilissen, Tom Hofste, Rachel S. van der Post, Bastiaan Klarenbeek, Johannes H.W. de Wilt, Marjolijn J. L. Ligtenberg, Linda M. Garms, Maite Liem, Tom Rozema, Dareczka K. Wasowicz, Pim Burger, Fatih Polat, Koen Reijnders, Marnix de Roos, Colin Sietses

    Published 2023
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  20. 20
    Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

    Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders by Eline Overwater, Luisa Marsili, Marieke J.H. Baars, Annette F. Baas, Irma van de Beek, Eelco Dulfer, Johanna M. van Hagen, Yvonne Hilhorst‐Hofstee, Marlies Kempers, Ingrid P.C. Krapels, Leonie A. Menke, Judith M.A. Verhagen, Kak Khee Yeung, Petra Zwijnenburg, Maarten Groenink, Peter van Rijn, Marjan M. Weiss, Els Voorhoeve, J. Peter van Tintelen, Arjan C. Houweling, Alessandra Maugeri

    Published 2018
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