Hasil Pencarian - Christian Gilissen

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  1. 1
    Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.

    Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. oleh Peter J Taylor, Grant A Betts, Sarah Maroulis, Christian Gilissen, Robyn L Pedersen, David R Mowat, Heather M Johnston, Michael F Buckley

    Diterbitkan 2010-01-01
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  2. 2
    Apoptosis-Related Gene Expression Profiling in Hematopoietic Cell Fractions of MDS Patients.

    Apoptosis-Related Gene Expression Profiling in Hematopoietic Cell Fractions of MDS Patients. oleh Saskia Mc Langemeijer, Niccolo Mariani, Ruth Knops, Christian Gilissen, Rob Woestenenk, Theo de Witte, Gerwin Huls, Bert A van der Reijden, Joop H Jansen

    Diterbitkan 2016-01-01
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  3. 3
    Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report

    Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report oleh Dulika Sumathipala, Petter Strømme, Christian Gilissen, Ingunn Holm Einarsen, Hilde J. Bjørndalen, Andrés Server, Jordi Corominas, Bjørnar Hassel, Madeleine Fannemel, Doriana Misceo, Eirik Frengen

    Diterbitkan 2020-05-01
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  4. 4
    Accurate distinction of pathogenic from benign CNVs in mental retardation.

    Accurate distinction of pathogenic from benign CNVs in mental retardation. oleh Jayne Y Hehir-Kwa, Nienke Wieskamp, Caleb Webber, Rolph Pfundt, Han G Brunner, Christian Gilissen, Bert B A de Vries, Chris P Ponting, Joris A Veltman

    Diterbitkan 2010-04-01
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  5. 5
    In or Out? New Insights on Exon Recognition through Splice-Site Interdependency

    In or Out? New Insights on Exon Recognition through Splice-Site Interdependency oleh Mubeen Khan, Stéphanie S. Cornelis, Riccardo Sangermano, Iris J.M. Post, Amber Janssen Groesbeek, Jan Amsu, Christian Gilissen, Alejandro Garanto, Rob W.J. Collin, Frans P.M. Cremers

    Diterbitkan 2020-03-01
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  6. 6
    Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65

    Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65 oleh Irene Vázquez-Domínguez, Michael Kwint, Hester Y Kroes, Silvia Albert, Luke O'Gorman, Christian Gilissen, Frans P.M. Cremers, Rob W.J. Collin, Susanne Roosing, Alejandro Garanto

    Diterbitkan 2022-04-01
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  7. 7
    Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

    Twist exome capture allows for lower average sequence coverage in clinical exome sequencing oleh Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, Christian Gilissen, Solve-RD consortium

    Diterbitkan 2023-05-01
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  8. 8
    Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

    Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation oleh Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, Debby Hellebrekers, Marloes Steehouwer, Juliet Hampstead, Elke de Boer, Alexander Stegmann, Helger Yntema, Erik-Jan Kamsteeg, Han Brunner, Alexander Hoischen, Christian Gilissen

    Diterbitkan 2023-10-01
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  9. 9
    Exome sequencing identifies three novel candidate genes implicated in intellectual disability.

    Exome sequencing identifies three novel candidate genes implicated in intellectual disability. oleh Zehra Agha, Zafar Iqbal, Maleeha Azam, Humaira Ayub, Lisenka E L M Vissers, Christian Gilissen, Syeda Hafiza Benish Ali, Moeen Riaz, Joris A Veltman, Rolph Pfundt, Hans van Bokhoven, Raheel Qamar

    Diterbitkan 2014-01-01
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  10. 10
    ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease

    ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease oleh María Rodríguez-Hidalgo, María Rodríguez-Hidalgo, Suzanne E. de Bruijn, Zelia Corradi, Kim Rodenburg, Araceli Lara-López, Alicia Valverde-Megías, Almudena Ávila-Fernández, Almudena Ávila-Fernández, Lidia Fernandez-Caballero, Lidia Fernandez-Caballero, Marta Del Pozo-Valero, Marta Del Pozo-Valero, Jordi Corominas, Jordi Corominas, Christian Gilissen, Christian Gilissen, Cristina Irigoyen, Cristina Irigoyen, Frans P. M. Cremers, Carmen Ayuso, Carmen Ayuso, Javier Ruiz-Ederra, Javier Ruiz-Ederra, Susanne Roosing

    Diterbitkan 2023-09-01
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  11. 11
    Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.

    Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility. oleh Timo A Kumpula, Sandra Vorimo, Taneli T Mattila, Luke O'Gorman, Galuh Astuti, Anna Tervasmäki, Susanna Koivuluoma, Tiina M Mattila, Mervi Grip, Robert Winqvist, Outi Kuismin, Jukka Moilanen, Alexander Hoischen, Christian Gilissen, Tuomo Mantere, Katri Pylkäs

    Diterbitkan 2023-08-01
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  12. 12
    Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients

    Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients oleh Roberta Zeuli, Marianthi Karali, Suzanne E. de Bruijn, Kim Rodenburg, Margherita Scarpato, Dalila Capasso, Galuh D.N. Astuti, Christian Gilissen, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Francesco Testa, Francesca Simonelli, Frans P.M. Cremers, Sandro Banfi, Susanne Roosing

    Diterbitkan 2024-07-01
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  13. 13
    Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses

    Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses oleh Rosanne C. van Deuren, Peer Arts, Giulio Cavalli, Martin Jaeger, Marloes Steehouwer, Maartje van de Vorst, Christian Gilissen, Leo A. B. Joosten, Charles A. Dinarello, Musa M. Mhlanga, Vinod Kumar, Mihai G. Netea, Frank L. van de Veerdonk, Alexander Hoischen

    Diterbitkan 2021-05-01
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  14. 14
    Comprehensive de novo mutation discovery with HiFi long-read sequencing

    Comprehensive de novo mutation discovery with HiFi long-read sequencing oleh Erdi Kucuk, Bart P. G. H. van der Sanden, Luke O’Gorman, Michael Kwint, Ronny Derks, Aaron M. Wenger, Christine Lambert, Shreyasee Chakraborty, Primo Baybayan, William J. Rowell, Han G. Brunner, Lisenka E. L. M. Vissers, Alexander Hoischen, Christian Gilissen

    Diterbitkan 2023-05-01
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  15. 15
    Long-read technologies identify a hidden inverted duplication in a family with choroideremia

    Long-read technologies identify a hidden inverted duplication in a family with choroideremia oleh Zeinab Fadaie, Kornelia Neveling, Tuomo Mantere, Ronny Derks, Lonneke Haer-Wigman, Amber den Ouden, Michael Kwint, Luke O’Gorman, Dyon Valkenburg, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Marcel Nelen, Frans P.M. Cremers, Alexander Hoischen, Susanne Roosing

    Diterbitkan 2021-10-01
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  16. 16
    Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline

    Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline oleh Brechtje Hoegen, Alan Zammit, Albert Gerritsen, Udo F. H. Engelke, Steven Castelein, Maartje van de Vorst, Leo A. J. Kluijtmans, Marleen C. D. G. Huigen, Ron A. Wevers, Alain J. van Gool, Christian Gilissen, Karlien L. M. Coene, Purva Kulkarni

    Diterbitkan 2021-08-01
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  17. 17
    Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesityResearch in context

    Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesityResearch in context oleh Johanna C. Andersson-Assarsson, Rosanne C. van Deuren, Felipe M. Kristensson, Marloes Steehouwer, Kajsa Sjöholm, Per-Arne Svensson, Marc Pieterse, Christian Gilissen, Magdalena Taube, Peter Jacobson, Rosie Perkins, Han G. Brunner, Mihai G. Netea, Markku Peltonen, Björn Carlsson, Alexander Hoischen, Lena M.S. Carlsson

    Diterbitkan 2023-06-01
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  18. 18
    Validation study of existing gene expression signatures for anti-TNF treatment in patients with rheumatoid arthritis.

    Validation study of existing gene expression signatures for anti-TNF treatment in patients with rheumatoid arthritis. oleh Erik J M Toonen, Christian Gilissen, Barbara Franke, Wietske Kievit, Agnes M Eijsbouts, Alfons A den Broeder, Simon V van Reijmersdal, Joris A Veltman, Hans Scheffer, Timothy R D J Radstake, Piet L C M van Riel, Pilar Barrera, Marieke J H Coenen

    Diterbitkan 2012-01-01
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  19. 19
    The Predicted Splicing Variant c.11+5G>A in <i>RPE65</i> Leads to a Reduction in mRNA Expression in a Cell-Specific Manner

    The Predicted Splicing Variant c.11+5G>A in <i>RPE65</i> Leads to a Reduction in mRNA Expression in a Cell-Specific Manner oleh Irene Vázquez-Domínguez, Lonneke Duijkers, Zeinab Fadaie, Eef C. W. Alaerds, Merel A. Post, Edwin M. van Oosten, Luke O’Gorman, Michael Kwint, Louet Koolen, Anita D. M. Hoogendoorn, Hester Y. Kroes, Christian Gilissen, Frans P. M. Cremers, Rob W. J. Collin, Susanne Roosing, Alejandro Garanto

    Diterbitkan 2022-11-01
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  20. 20
    Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

    Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications oleh Gaby Schobers, Jolanda H. Schieving, Helger G. Yntema, Maartje Pennings, Rolph Pfundt, Ronny Derks, Tom Hofste, Ilse de Wijs, Nienke Wieskamp, Simone van den Heuvel, Jordi Corominas Galbany, Christian Gilissen, Marcel Nelen, Han G. Brunner, Tjitske Kleefstra, Erik-Jan Kamsteeg, Michèl A. A. P. Willemsen, Lisenka E. L. M. Vissers

    Diterbitkan 2022-06-01
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