Hasil Pencarian - Hilde Van Esch

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  1. 1
    Human Brain Models of Intellectual Disability: Experimental Advances and Novelties

    Human Brain Models of Intellectual Disability: Experimental Advances and Novelties oleh Nona Laura Lisa Merckx, Hilde Van Esch

    Diterbitkan 2022-06-01
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  2. 2
    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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  3. 3
    Network analysis of differential expression for the identification of disease-causing genes.

    Network analysis of differential expression for the identification of disease-causing genes. oleh Daniela Nitsch, Léon-Charles Tranchevent, Bernard Thienpont, Lieven Thorrez, Hilde Van Esch, Koenraad Devriendt, Yves Moreau

    Diterbitkan 2009-01-01
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  4. 4
    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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  5. 5
    Differences in Cerebral Glucose Metabolism in ALS Patients with and without <i>C9orf72</i> and <i>SOD1</i> Mutations

    Differences in Cerebral Glucose Metabolism in ALS Patients with and without <i>C9orf72</i> and <i>SOD1</i> Mutations oleh Joke De Vocht, Donatienne Van Weehaeghe, Fouke Ombelet, Pegah Masrori, Nikita Lamaire, Martijn Devrome, Hilde Van Esch, Mathieu Moisse, Michel Koole, Patrick Dupont, Koen Van Laere, Philip Van Damme

    Diterbitkan 2023-03-01
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  6. 6
    MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome

    MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome oleh Cedric Thues, Jorge S. Valadas, Liesbeth Deaulmerie, Ann Geens, Amit K. Chouhan, Ramon Duran-Romaña, Joost Schymkowitz, Frederic Rousseau, Michaela Bartusel, Rizwan Rehimi, Alvaro Rada-Iglesias, Patrik Verstreken, Hilde Van Esch

    Diterbitkan 2021-03-01
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  7. 7
    Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients.

    Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients. oleh Charlotte D'Hulst, Inge Heulens, Nathalie Van der Aa, Karolien Goffin, Michel Koole, Kathleen Porke, Marc Van De Velde, Liesbeth Rooms, Wim Van Paesschen, Hilde Van Esch, Koen Van Laere, R Frank Kooy

    Diterbitkan 2015-01-01
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  8. 8
    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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  9. 9
    Comprehensive analysis of neuronal guidance cue expression regulation during monocyte-to-macrophage differentiation reveals post-transcriptional regulation of semaphorin7A by the RNA-binding protein quaking

    Comprehensive analysis of neuronal guidance cue expression regulation during monocyte-to-macrophage differentiation reveals post-transcriptional regulation of semaphorin7A by the R... oleh Huayu Zhang, Jurriën Prins, Dianne Vreeken, Barend W Florijn, Ruben G de Bruin, Oscar RJ van Hengel, Mieke F van Essen, Jacques MGJ Duijs, Hilde Van Esch, Eric P van der Veer, Anton Jan van Zonneveld, Janine M van Gils

    Diterbitkan 2021-02-01
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  10. 10
    The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review

    The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review oleh Fátima Lopes, Fátima Lopes, Fátima Torres, Fátima Torres, Gabriela Soares, Clara D. van Karnebeek, Clara D. van Karnebeek, Cecília Martins, Diana Antunes, João Silva, Lauren Muttucomaroe, Luís Filipe Botelho, Susana Sousa, Susana Sousa, Paula Rendeiro, Purificação Tavares, Hilde Van Esch, Evica Rajcan-Separovic, Patrícia Maciel, Patrícia Maciel

    Diterbitkan 2019-02-01
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  11. 11
    Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

    Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy oleh Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, François‐Guillaume Debray, Anne Destree, Koenraad Devriendt, Anna Jansen, Kathelijn Keymolen, Damien Lederer, Bart Loeys, Marije Meuwissen, Stéphanie Moortgat, Geert Mortier, Marie‐Cécile Nassogne, Tayeb Sekhara, Rudy Van Coster, Jenny Van Den Ende, Nathalie Van der Aa, Hilde Van Esch, Olivier Vanakker, Helene Verhelst, Catheline Vilain, Sarah Weckhuysen, Sandrine Passemard, Alain Verloes, Alec Aeby, Nicolas Deconinck, Patrick Van Bogaert, Isabelle Pirson, Marc Abramowicz

    Diterbitkan 2021-09-01
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  12. 12
    Quaking promotes monocyte differentiation into pro-atherogenic macrophages by controlling pre-mRNA splicing and gene expression

    Quaking promotes monocyte differentiation into pro-atherogenic macrophages by controlling pre-mRNA splicing and gene expression oleh Ruben G. de Bruin, Lily Shiue, Jurriën Prins, Hetty C. de Boer, Anjana Singh, W. Samuel Fagg, Janine M. van Gils, Jacques M. G. J. Duijs, Sol Katzman, Adriaan O. Kraaijeveld, Stefan Böhringer, Wai Y. Leung, Szymon M. Kielbasa, John P. Donahue, Patrick H.J. van der Zande, Rick Sijbom, Carla M. A. van Alem, Ilze Bot, Cees van Kooten, J. Wouter Jukema, Hilde Van Esch, Ton J. Rabelink, Hilal Kazan, Erik A. L. Biessen, Manuel Ares Jr., Anton Jan van Zonneveld, Eric P. van der Veer

    Diterbitkan 2016-03-01
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  13. 13
    Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark–Baraitser Syndrome

    Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark–Baraitser Syndrome oleh Liselot van der Laan, Kathleen Rooney, Mariëlle Alders, Raissa Relator, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Peter Lauffer, Mio Aerden, Miel Theunis, Eric Legius, Matthew L. Tedder, Lisenka E. L. M. Vissers, Saskia Koene, Claudia Ruivenkamp, Mariette J. V. Hoffer, Dagmar Wieczorek, Nuria C. Bramswig, Theresia Herget, Vanesa López González, Fernando Santos-Simarro, Pernille M. Tørring, Anne-Sophie Denomme-Pichon, Bertrand Isidor, Boris Keren, Sophie Julia, Elise Schaefer, Christine Francannet, Pierre-Yves Maillard, Mala Misra-Isrie, Hilde Van Esch, Marcel M. A. M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman

    Diterbitkan 2022-11-01
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  14. 14
    Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

    Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative oleh Christoffer Nellåker, Christoffer Nellåker, Christoffer Nellåker, Fowzan S. Alkuraya, Gareth Baynam, Gareth Baynam, Gareth Baynam, Raphael A. Bernier, Francois P.J. Bernier, Vanessa Boulanger, Michael Brudno, Han G. Brunner, Jill Clayton-Smith, Benjamin Cogné, Hugh J.S. Dawkins, Hugh J.S. Dawkins, Hugh J.S. Dawkins, Bert B.A. deVries, Sofia Douzgou, Tracy Dudding-Byth, Evan E. Eichler, Evan E. Eichler, Michael Ferlaino, Michael Ferlaino, Karen Fieggen, Helen V. Firth, David R. FitzPatrick, Dylan Gration, Tudor Groza, Melissa Haendel, Nina Hallowell, Nina Hallowell, Nina Hallowell, Ada Hamosh, Jayne Hehir-Kwa, Marc-Phillip Hitz, Mark Hughes, Usha Kini, Tjitske Kleefstra, R Frank Kooy, Peter Krawitz, Sébastien Küry, Melissa Lees, Gholson J. Lyon, Stanislas Lyonnet, Julien L. Marcadier, Stephen Meyn, Veronika Moslerová, Juan M. Politei, Cathryn C. Poulton, F Lucy Raymond, Margot R.F. Reijnders, Peter N. Robinson, Corrado Romano, Catherine M. Rose, David C.G. Sainsbury, Lyn Schofield, Vernon R. Sutton, Marek Turnovec, Anke Van Dijck, Hilde Van Esch, Andrew O.M. Wilkie, The Minerva Consortium

    Diterbitkan 2019-07-01
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