Risultati della ricerca - Rolph Pfundt

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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 di JY Hehir‐Kwa, Rolph Pfundt, Joris A. Veltman, Nicole de Leeuw

    Pubblicazione 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 di Kévin Yauy, Nicole de Leeuw, Helger G. Yntema, Rolph Pfundt, Christian Gilissen

    Pubblicazione 2019
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  3. 3
    Uniparental disomy in the human blastocyst is exceedingly rare

    Uniparental disomy in the human blastocyst is exceedingly rare di Ndeye-Aicha Gueye, Batsal Devkota, Deanne Taylor, Rolph Pfundt, Richard T. Scott, Nathan R. Treff

    Pubblicazione 2013
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  4. 4
    Reduced purifying selection prevails over positive selection in human copy number variant evolution

    Reduced purifying selection prevails over positive selection in human copy number variant evolution di Duc-Quang Nguyen, Caleb Webber, Jayne Y. Hehir‐Kwa, Rolph Pfundt, Joris A. Veltman, Chris P. Ponting

    Pubblicazione 2008
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  5. 5
    Clinical exome sequencing—Mistakes and caveats

    Clinical exome sequencing—Mistakes and caveats di Jordi Corominas, Sanne P. Smeekens, Marcel Nelen, Helger G. Yntema, Erik‐Jan Kamsteeg, Rolph Pfundt, Christian Gilissen

    Pubblicazione 2022
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  6. 6
    X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability

    X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability di W.M.A. Verhoeven, Rolph Pfundt, Udo F. H. Engelke, Leo A. J. Kluijtmans, J.I.M. Egger

    Pubblicazione 2025
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  7. 7
    Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines

    Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines di Gaia Roversi, Rolph Pfundt, Ramona Frida Moroni, Ivana Magnani, S V van Reijmersdal, Bianca Pollo, Huub Straatman, Lidia Larizza, Eric Schoenmakers

    Pubblicazione 2005
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  8. 8
    ACAN Gene Mutations in Short Children Born SGA and Response to Growth Hormone Treatment

    ACAN Gene Mutations in Short Children Born SGA and Response to Growth Hormone Treatment di Manouk van der Steen, Rolph Pfundt, Stephan J.W.H. Maas, Willie M. Bakker‐van Waarde, Roelof J. Odink, Anita Hokken-Koelega

    Pubblicazione 2016
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  9. 9
    Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization

    Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization di Margit Schraders, Rolph Pfundt, Huub Straatman, Irene M. Janssen, Ad Geurts van Kessel, Eric Schoenmakers, J. Han van Krieken, Patricia J.T.A. Groenen

    Pubblicazione 2004
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  10. 10
    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 di 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

    Pubblicazione 2010
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  11. 11
    Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes

    Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes di Stefan H. Lelieveld, Laurens Wiel, Hanka Venselaar, Rolph Pfundt, Gerrit Vriend, Joris A. Veltman, Han G. Brunner, Lisenka E.L.M. Vissers, Christian Gilissen

    Pubblicazione 2017
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  12. 12
    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... di 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

    Pubblicazione 2022
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  13. 13
    Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

    Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene di Ludovica Volpi, Gaia Roversi, Elisa Adele Colombo, Nico Leijsten, Daniela Concolino, Andrea Calabria, Maria Antonietta Mencarelli, Michele Fimiani, Fabìo Macciardi, Rolph Pfundt, Eric Schoenmakers, Lidia Larizza

    Pubblicazione 2009
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  14. 14
    Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay

    Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay di Michael Parkinson, Ana Paula Bartmann, Lisa M. Clayton, Suran Nethisinghe, Rolph Pfundt, J. Paul Chapple, Mary M. Reilly, Hadi Manji, Nicholas Wood, Fion Bremner, Paola Giunti

    Pubblicazione 2018
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  15. 15
    Chemokine induction by all-trans retinoic acid and arsenic trioxide in acute promyelocytic leukemia: triggering the differentiation syndrome

    Chemokine induction by all-trans retinoic acid and arsenic trioxide in acute promyelocytic leukemia: triggering the differentiation syndrome di Maaike Luesink, Jeroen L.A. Pennings, Willemijn Wissink, P. Linssen, Petra Muus, Rolph Pfundt, T.J.M. de Witte, Bert A. van der Reijden, Joop H. Jansen

    Pubblicazione 2009
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  16. 16
    Identification and functional characterization of<i>de novo FOXP1</i>variants provides novel insights into the etiology of neurodevelopmental disorder

    Identification and functional characterization of<i>de novo FOXP1</i>variants provides novel insights into the etiology of neurodevelopmental disorder di Elliot Sollis, Sarah A. Graham, Arianna Vino, Henning Froehlich, Maaike Vreeburg, D. Dimitropoulou, Christian Gilissen, Rolph Pfundt, Gudrun Rappold, Han G. Brunner, Pelagia Derizioti, Simon E. Fisher

    Pubblicazione 2015
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  17. 17
    Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

    Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy di P. Smits, Ann Saada, Saskia B. Wortmann, Angelien Heister, Maaike Brink, Rolph Pfundt, Chaya Miller, Dorothea Haas, Ralph Hantschmann, Richard J. Rodenburg, Jan A M Smeitink, Lambert P van den Heuvel

    Pubblicazione 2010
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  18. 18
    Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

    Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome di Bob Glaudemans, Helger G. Yntema, Pedro San‐Cristobal, Jeroen Schoots, Rolph Pfundt, E.-J. Kamsteeg, René J.M. Bindels, Nine V.A.M. Knoers, Joost G.J. Hoenderop, Lies H. Hoefsloot

    Pubblicazione 2011
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  19. 19
    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 di 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

    Pubblicazione 2023
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  20. 20
    Congenital myopathy caused by a novel missense mutation in the CFL2 gene

    Congenital myopathy caused by a novel missense mutation in the CFL2 gene di Charlotte W. Ockeloen, H. Jacobus Gilhuis, Rolph Pfundt, Erik‐Jan Kamsteeg, Pankaj B. Agrawal, Alan H. Beggs, A. Dara Hama‐Amin, Adinda Diekstra, Nine V.A.M. Knoers, Martin Lammens, Nens van Alfen

    Pubblicazione 2012
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