Результаты поиска - Nicole de Leeuw

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  1. 1
    Pathogenic or not? Assessing the clinical relevance of copy number variants

    Pathogenic or not? Assessing the clinical relevance of copy number variants по JY Hehir‐Kwa, Rolph Pfundt, Joris A. Veltman, Nicole de Leeuw

    Опубликовано 2013
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  2. 2
    Accurate detection of clinically relevant uniparental disomy from exome sequencing data

    Accurate detection of clinically relevant uniparental disomy from exome sequencing data по Kévin Yauy, Nicole de Leeuw, Helger G. Yntema, Rolph Pfundt, Christian Gilissen

    Опубликовано 2019
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    Artigo
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  3. 3
    Stepwise ABC system for classification of any type of genetic variant

    Stepwise ABC system for classification of any type of genetic variant по Gunnar Houge, Andreas Laner, Sebahattin Çırak, Nicole de Leeuw, Hans Scheffer, Johan T. den Dunnen

    Опубликовано 2021
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    Artigo
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  4. 4
    European guidelines for constitutional cytogenomic analysis

    European guidelines for constitutional cytogenomic analysis по Marisa Silva, Nicole de Leeuw, Kathy Mann, Heleen Schuring‐Blom, Siân Morgan, Daniela Giardino, Katrina Rack, Ros Hastings

    Опубликовано 2018
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  5. 5
    Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

    Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis по Brigitte H. W. Faas, I. van der Bürgt, Angelique J. A. Kooper, Rolph Pfundt, Jayne Y. Hehir‐Kwa, Arie P.T. Smits, Nicole de Leeuw

    Опубликовано 2010
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    Artigo
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  6. 6
    Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil

    Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exo... по Ana Julia da Cunha Leite, Irene Plaza Pinto, Nico Leijsten, Martina Ruiterkamp‐Versteeg, Rolph Pfundt, Nicole de Leeuw, Aparecido Divino da Cruz, Lysa Bernardes Minasi

    Опубликовано 2022
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    Artigo
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  7. 7
    Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review

    Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review по Gabriela Roldão Correia‐Costa, Ana Mondadori dos Santos, Nicole de Leeuw, Sumara Zuanazi Pinto Rigatto, Vera Maria Santoro Belangero, Carlos Eduardo Steiner, Vera Lúcia Gil‐da‐Silva‐Lopes, Társis Paiva Vieira

    Опубликовано 2022
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  8. 8
    Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies

    Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies по Maartje Pennings, Rowdy Meijer, Monique M. Gerrits, Jannie W.H. Janssen, Rolph Pfundt, Nicole de Leeuw, Christian Gilissen, Thatjana Gardeitchik, Meyke Schouten, Nicol C. Voermans, Bart van de Warrenburg, Erik‐Jan Kamsteeg

    Опубликовано 2023
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    Artigo
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  9. 9
    Novel genetic causes for cerebral visual impairment

    Novel genetic causes for cerebral visual impairment по Daniëlle G.M. Bosch, F. Nienke Boonstra, Nicole de Leeuw, Rolph Pfundt, Willy M. Nillesen, Joep de Ligt, Christian Gilissen, Shalini N. Jhangiani, James R. Lupski, Frans P.M. Cremers, Bert BA de Vries

    Опубликовано 2015
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    Artigo
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  10. 10
    Guidelines for molecular karyotyping in constitutional genetic diagnosis

    Guidelines for molecular karyotyping in constitutional genetic diagnosis по Joris Vermeesch, Heike Fiegler, Nicole de Leeuw, Károly Szuhai, Jacqueline Schoumans, Roberto Ciccone, Frank Speleman, Anita Rauch, Jill Clayton‐Smith, Conny van Ravenswaaij, Damien Sanlaville, Philippos C. Patsalis, Helen V. Firth, Koenraad Devriendt, Orsetta Zuffardi

    Опубликовано 2007
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  11. 11
    Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing

    Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing по Joep de Ligt, Philip M. Boone, Rolph Pfundt, Lisenka E.L.M. Vissers, Todd Richmond, Joel Geoghegan, Kathleen O’Moore, Nicole de Leeuw, Christine J. Shaw, Han G. Brunner, James R. Lupski, Joris A. Veltman, Jayne Y. Hehir‐Kwa

    Опубликовано 2013
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    Artigo
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  12. 12
    Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

    Genomic microarrays in mental retardation: A practical workflow for diagnostic applications по David A. Koolen, Rolph Pfundt, Nicole de Leeuw, Jayne Y. Hehir‐Kwa, Willy M. Nillesen, Ineke Neefs, Ine Scheltinga, Erik A. Sistermans, H.J.M. Smeets, Han G. Brunner, Ad Geurts van Kessel, Joris A. Veltman, Bert B.A. de Vries

    Опубликовано 2008
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  13. 13
    C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

    C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome по Heleen H. Arts, Ernie M.H.F. Bongers, Dorus A. Mans, Sylvia E. C. van Beersum, M. M. Oud, Emine Bolat, Liesbeth Spruijt, Marlies Cornelissen, Janneke Schuurs-Hoeijmakers, Nicole de Leeuw, Valérie Cormier‐Daire, Han G. Brunner, Nine V.A.M. Knoers, Ronald Roepman

    Опубликовано 2011
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    Artigo
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  14. 14
    Clinical Significance of De Novo and Inherited Copy-Number Variation

    Clinical Significance of De Novo and Inherited Copy-Number Variation по Anneke T. Vulto-van Silfhout, Jayne Y. Hehir‐Kwa, Bregje W.M. van Bon, Janneke Schuurs-Hoeijmakers, Stephen Meader, Claudia J.M. Hellebrekers, Ilse J.M. Thoonen, Arjan P.M. de Brouwer, Han G. Brunner, Caleb Webber, Rolph Pfundt, Nicole de Leeuw, Bert de Vries

    Опубликовано 2013
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    Artigo
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  15. 15
    <i>AP2M1</i> Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

    <i>AP2M1</i> Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions по Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M.A. Verhagen, Alexander A.L. Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Emilio A. Martı́nez, Anne O’Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, David S. Francis, Natasha J. Brown

    Опубликовано 2025
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  16. 16
    Diagnostic interpretation of array data using public databases and internet sources

    Diagnostic interpretation of array data using public databases and internet sources по Nicole de Leeuw, Trijnie Dijkhuizen, Jayne Y. Hehir‐Kwa, Nigel P. Carter, Lars Feuk, Helen V. Firth, Robert M. Kuhn, David H. Ledbetter, Alastair J. Martin, Conny M.A. van Ravenswaaij‐Arts, Stephen W. Scherer, Soheil Shams, Steven Van Vooren, Rolf H. Sijmons, Morris A. Swertz, Ros Hastings

    Опубликовано 2012
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    Artigo
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  17. 17
    Central 22q11.2 deletions

    Central 22q11.2 deletions по Patrick Rump, Nicole de Leeuw, Anthonie J. van Essen, Corien C. Verschuuren‐Bemelmans, Hermine E. Veenstra‐Knol, Mariëlle E.M. Swinkels, Wilma Oostdijk, Claudia Ruivenkamp, William Reardon, Sonja de Munnik, Mariken Ruiter, Ayala Frumkin, Dorit Lev, Christina Evers, Birgit Sikkema‐Raddatz, Trijnie Dijkhuizen, Conny M.A. van Ravenswaaij‐Arts

    Опубликовано 2014
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  18. 18
    Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

    Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies по Beata Nowakowska, Nicole de Leeuw, Claudia AL Ruivenkamp, Birgit Sikkema‐Raddatz, John A. Crolla, Ronald Thoelen, Marion Koopmans, Nicolette den Hollander, Arie van Haeringen, Anne-Marie Van Der Kevie-Kersemaekers, Rolph Pfundt, Hanneke Mieloo, Ton van Essen, Bert B A de Vries, Andrew Green, William Reardon, Jean‐Pierre Fryns, Joris Vermeesch

    Опубликовано 2011
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    Artigo
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  19. 19
    Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study

    Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study по Dominic McMullan, Michael Bonin, Jayne Y. Hehir‐Kwa, Bert B.A. de Vries, Andreas Dufke, Eleanor Rattenberry, Marloes Steehouwer, Luminita Moruz, Rolph Pfundt, Nicole de Leeuw, Angelika Rieß, Özge Altug-Teber, H. Enders, Sylke Singer, Ute Grasshoff, Michael Walter, Judith Walker, Catherine V. Lamb, E. V. Davison, Louise Brueton, Olaf Rieß, Joris A. Veltman

    Опубликовано 2009
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  20. 20
    Diagnostic Genome Profiling in Mental Retardation

    Diagnostic Genome Profiling in Mental Retardation по Bert B.A. de Vries, Rolph Pfundt, M.A.R. Leisink, David A. Koolen, Lisenka E.L.M. Vissers, Irene M. Janssen, Simon V. van Reijmersdal, Willy M. Nillesen, Erik Huys, Nicole de Leeuw, Dominique Smeets, Erik A. Sistermans, Ton Feuth, Conny M.A. van Ravenswaaij‐Arts, Ad Geurts van Kessel, Eric Schoenmakers, Han G. Brunner, Joris A. Veltman

    Опубликовано 2005
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