Hasil Pencarian - Joris R Vermeesch

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  1. 1
    Low copy repeats in the genome: from neglected to respected

    Low copy repeats in the genome: from neglected to respected oleh Lisanne Vervoort, Joris R. Vermeesch

    Diterbitkan 2023-04-01
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  2. 2
    A benchmark of structural variation detection by long reads through a realistic simulated model

    A benchmark of structural variation detection by long reads through a realistic simulated model oleh Nicolas Dierckxsens, Tong Li, Joris R. Vermeesch, Zhi Xie

    Diterbitkan 2021-12-01
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  3. 3
    Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

    Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability oleh Alena Zablotskaya, Hilde Van Esch, Kevin J. Verstrepen, Guy Froyen, Joris R. Vermeesch

    Diterbitkan 2018-12-01
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  4. 4
    LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition

    LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this conditi... oleh Lesley Hart, Anita Rauch, Antony M. Carr, Joris R. Vermeesch, Mark O’Driscoll

    Diterbitkan 2014-05-01
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  5. 5
    Corrigendum to “FANCA knockout in human embryonic stem cells causes a severe growth disadvantage” [Stem Cell Res.13/2 (2014) 240-50]

    Corrigendum to “FANCA knockout in human embryonic stem cells causes a severe growth disadvantage” [Stem Cell Res.13/2 (2014) 240-50] oleh Kim Vanuytsel, Qing Cai, Satish Khurana, Swati Shetty, Joris R. Vermeesch, Laura Ordovas, Catherine M. Verfaillie

    Diterbitkan 2020-04-01
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  6. 6
    Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

    Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience oleh Simon Ardui, Valerie Race, Thomy de Ravel, Hilde Van Esch, Koenraad Devriendt, Gert Matthijs, Joris R. Vermeesch

    Diterbitkan 2018-05-01
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  7. 7
    22q11.2 Low Copy Repeats Expanded in the Human Lineage

    22q11.2 Low Copy Repeats Expanded in the Human Lineage oleh Lisanne Vervoort, Nicolas Dierckxsens, Zjef Pereboom, Zjef Pereboom, Oronzo Capozzi, Mariano Rocchi, Tamim H. Shaikh, Joris R. Vermeesch

    Diterbitkan 2021-07-01
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  8. 8
    FANCA knockout in human embryonic stem cells causes a severe growth disadvantage

    FANCA knockout in human embryonic stem cells causes a severe growth disadvantage oleh Kim Vanuytsel, Qing Cai, Nisha Nair, Satish Khurana, Swati Shetty, Joris R. Vermeesch, Laura Ordovas, Catherine M. Verfaillie

    Diterbitkan 2014-09-01
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  9. 9
    Pulmonary transcriptome analysis in the surgically induced rabbit model of diaphragmatic hernia treated with fetal tracheal occlusion

    Pulmonary transcriptome analysis in the surgically induced rabbit model of diaphragmatic hernia treated with fetal tracheal occlusion oleh Alexander C. Engels, Paul D. Brady, Molka Kammoun, Julio Finalet Ferreiro, Philip DeKoninck, Masayuki Endo, Jaan Toelen, Joris R. Vermeesch, Jan Deprest

    Diterbitkan 2016-02-01
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  10. 10
    Preeclampsia is Associated with Sex-Specific Transcriptional and Proteomic Changes in Fetal Erythroid Cells

    Preeclampsia is Associated with Sex-Specific Transcriptional and Proteomic Changes in Fetal Erythroid Cells oleh Zahra Masoumi, Gregory E. Maes, Koen Herten, Álvaro Cortés-Calabuig, Abdul Ghani Alattar, Eva Hanson, Lena Erlandsson, Eva Mezey, Mattias Magnusson, Joris R Vermeesch, Mary Familari, Stefan R Hansson

    Diterbitkan 2019-04-01
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  11. 11
    Pseudoautosomal region 1 length polymorphism in the human population.

    Pseudoautosomal region 1 length polymorphism in the human population. oleh Martin A Mensah, Matthew S Hestand, Maarten H D Larmuseau, Mala Isrie, Nancy Vanderheyden, Matthias Declercq, Erika L Souche, Jeroen Van Houdt, Radka Stoeva, Hilde Van Esch, Koen Devriendt, Thierry Voet, Ronny Decorte, Peter N Robinson, Joris R Vermeesch

    Diterbitkan 2014-11-01
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  12. 12
    Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

    Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders oleh Gregory Costain, Susan Walker, Bob Argiropoulos, Danielle A. Baribeau, Anne S. Bassett, Erik Boot, Koen Devriendt, Barbara Kellam, Christian R. Marshall, Aparna Prasad, Moises A. Serrano, D. James Stavropoulos, Hope Twede, Joris R. Vermeesch, Jacob A. S. Vorstman, Stephen W. Scherer

    Diterbitkan 2019-02-01
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  13. 13
    Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

    Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS oleh Yingjie Zhao, Yujue Wang, Lijie Shi, Donna M. McDonald-McGinn, T. Blaine Crowley, Daniel E. McGinn, Oanh T. Tran, Daniella Miller, Jhih-Rong Lin, Elaine Zackai, H. Richard Johnston, Eva W. C. Chow, Jacob A. S. Vorstman, Claudia Vingerhoets, Therese van Amelsvoort, Doron Gothelf, Ann Swillen, Jeroen Breckpot, Joris R. Vermeesch, Stephan Eliez, Maude Schneider, Marianne B. M. van den Bree, Michael J. Owen, Wendy R. Kates, Gabriela M. Repetto, Vandana Shashi, Kelly Schoch, Carrie E. Bearden, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Bruno Marino, Maria Pontillo, Marco Armando, Stefano Vicari, Kathleen Angkustsiri, Linda Campbell, Tiffany Busa, Damian Heine-Suñer, Kieran C. Murphy, Declan Murphy, Sixto García-Miñaúr, Luis Fernández, International 22q11.2 Brain and Behavior Consortium (IBBC), Zhengdong D. Zhang, Elizabeth Goldmuntz, Raquel E. Gur, Beverly S. Emanuel, Deyou Zheng, Christian R. Marshall, Anne S. Bassett, Tao Wang, Bernice E. Morrow

    Diterbitkan 2023-07-01
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