Výsledky vyhledávání - Thomy de Ravel

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  1. 1
    Clinical and molecular aspects of RAS related disorders

    Clinical and molecular aspects of RAS related disorders Autor Ellen Denayer, Thomy de Ravel, Eric Legius

    Vydáno 2008
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  2. 2
    Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

    Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients Autor Bernard Thienpont, Luc Mertens, Thomy de Ravel, B. Eyskens, Derize Boshoff, N Maas, J. P. Fryns, Marc Gewillig, Joris Vermeesch, K. Devriendt

    Vydáno 2007
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  3. 3
    Deletions in the<i>VPS13B</i>(<i>COH1</i>) gene as a cause of Cohen syndrome

    Deletions in the<i>VPS13B</i>(<i>COH1</i>) gene as a cause of Cohen syndrome Autor Irina Balikova, A‐E Lehesjoki, Thomy de Ravel, Bernard Thienpont, Kate Chandler, Jill Clayton‐Smith, A L Träskelin, J-P. Fryns, Joris Vermeesch

    Vydáno 2009
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  4. 4
    Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills

    Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills Autor A Denayer, Hilde Van Esch, Thomy de Ravel, Jean‐Pierre Frijns, Griet Van Buggenhout, Annick Vogels, Koenraad Devriendt, J. Geutjens, Paul Thiry, Ann Swillen

    Vydáno 2012
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  5. 5
    Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos

    Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos Autor Eftychia Dimitriadou, Cindy Melotte, Sophie Debrock, Masoud Zamani Esteki, Kris Dierickx, Thierry Voet, Koenraad Devriendt, Thomy de Ravel, Eric Legius, Karen Peeraer, Christel Meuleman, Joris Vermeesch

    Vydáno 2017
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  6. 6
    Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa

    Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa Autor A. J. Tipping, Tommy Pearson, Neil V. Morgan, Rachel A. Gibson, L. P. Kuyt, Charmaine Havenga, Éliane Gluckman, Hans Joenje, Thomy de Ravel, S Jansen, Christopher G. Mathew

    Vydáno 2001
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  7. 7
    Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E

    Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E Autor Eva Klopocki, Bianca P. Hennig, Katarina Dathe, Randi Koll, Thomy de Ravel, Emiel Baten, Eveline W Blom, Y. Gillerot, Johannes Weigel, Gabriele Krüger, Olaf Hiort, Petra Seemann, Stefan Mundlos

    Vydáno 2010
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  8. 8
    Sclerocornea in a patient with van den Ende–Gupta syndrome homozygous for a <i>SCARF2</i> microdeletion

    Sclerocornea in a patient with van den Ende–Gupta syndrome homozygous for a <i>SCARF2</i> microdeletion Autor Michele Patricia Migliavacca, Nara L. M. Sobreira, Graziela P.M. Antonialli, Mariana Moysés‐Oliveira, Maria Isabel Melaragno, Ingele Casteels, Thomy de Ravel, Décio Brunoni, David Valle, Ana B. Alvarez Perez

    Vydáno 2014
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  9. 9
    Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing

    Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing Autor Nathalie Brison, Maria Neofytou, Luc Dehaspe, Baran Bayindir, Kris Van Den Bogaert, Leila Dardour, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koenraad Devriendt, Joris Vermeesch

    Vydáno 2018
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  10. 10
    Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M

    Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M Autor Aspasia Destouni, Eftychia Dimitriadou, Heleen Masset, Sophie Debrock, Cindy Melotte, Kris Van Den Bogaert, Masoud Zamani Esteki, Jia Ding, Thierry Voet, Ellen Denayer, Thomy de Ravel, Eric Legius, Christel Meuleman, Karen Peeraer, Joris Vermeesch

    Vydáno 2018
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  11. 11
    Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

    Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy Autor Frauke Coppieters, Kristof Van Schil, Miriam Bauwens, Hannah Verdin, Annelies De Jaegher, Delfien Syx, Tom Sante, Steve Lefever, N. Bouayed Abdelmoula, Fanny Depasse, Ingele Casteels, Thomy de Ravel, Françoise Meire, Bart P. Leroy, Elfride De Baere

    Vydáno 2014
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  12. 12
    Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

    Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies Autor Nathalie Brison, Kris Van Den Bogaert, Luc Dehaspe, Jessica M.E. van den Oever, Katrien Janssens, Bettina Blaumeiser, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koenraad Devriendt, Joris Vermeesch

    Vydáno 2016
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  13. 13
    Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

    Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families Autor Caroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels, Sarah De Jaegere, Helena Flipts, Julie De Zaeytijd, Sophie Walraedt, Charlotte Claes, Erik Fransen, Guy Van Camp, Fanny Depasse, Ingele Casteels, Thomy de Ravel, Bart P. Leroy, Elfride De Baere

    Vydáno 2017
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  14. 14
    Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

    Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management Autor Baran Bayindir, Luc Dehaspe, Nathalie Brison, Paul Brady, Simon Ardui, Molka Kammoun, Lars van der Veken, Klaske D. Lichtenbelt, Kris Van Den Bogaert, Jeroen Van Houdt, Hilde Peeters, Hilde Van Esch, Thomy de Ravel, Eric Legius, Koenraad Devriendt, Joris Vermeesch

    Vydáno 2015
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  15. 15
    Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

    Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator Autor Aimé Lumaka, Nele Cosemans, Aimée Lulebo Mampasi, Gerrye Mubungu, Nono Mvuama, Toni Kasole Lubala, Sébastien Mbuyi‐Musanzayi, Jeroen Breckpot, Maureen Holvoet, Thomy de Ravel, Griet Van Buggenhout, Hilde Peeters, Dian Donnai, Léon Mutesa, Alain Verloès, Prosper Lukusa-Tshilobo, Koenraad Devriendt

    Vydáno 2016
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  16. 16
    A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors

    A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unc... Autor Paul Brady, Barbara Delle Chiaie, Gabrielle Christenhusz, Kris Dierickx, Kris Van Den Bogaert, Björn Menten, Sandra Janssens, Paul Defoort, Ellen Roets, E Sleurs, Kathelijn Keymolen, Luc De Catte, Jan Deprest, Thomy de Ravel, Hilde Van Esch, J. P. Fryns, Koenraad Devriendt, Joris Vermeesch

    Vydáno 2013
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  17. 17
    Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

    Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant Autor Femke Hannes, Andrew J. Sharp, Heather C. Mefford, Thomy de Ravel, Claudia Ruivenkamp, M.H. Breuning, JP Fryns, Koenraad Devriendt, Griet Van Buggenhout, Annick Vogels, Helen Stewart, Raoul C. M. Hennekam, Gregory M. Cooper, Regina Regan, Samantha J.L. Knight, Evan E. Eichler, Joris Vermeesch

    Vydáno 2008
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  18. 18
    Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

    Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome) Autor Christiane Zweier, Maarit Peippo, Juliane Hoyer, Sérgio B. Sousa, Armand Bottani, Jill Clayton‐Smith, William Reardon, Jorge Saraiva, Alexandra Cabral, Ina Göhring, Koenraad Devriendt, Thomy de Ravel, Emilia K. Bijlsma, Raoul C. M. Hennekam, Alfredo Orrico, Monika Cohen, Alexander Dreweke, André Reis, Peter Nürnberg, Anita Rauch

    Vydáno 2007
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  19. 19
    Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

    Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes Autor Frauke Coppieters, Ingele Casteels, Françoise Meire, Sarah De Jaegere, Sally Hooghe, Nicole Van Regemorter, Hilde Van Esch, Aušra Matulevičienė, Luís Nunes, Valérie Meersschaut, Sophie Walraedt, Lieve Standaert, Paul Coucke, Heidi Hoeben, Hester Y. Kroes, Johan Vande Walle, Thomy de Ravel, Bart P. Leroy, Elfride De Baere

    Vydáno 2010
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  20. 20
    Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

    Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment Autor Nicola Brunetti‐Pierri, Alex R. Paciorkowski, Roberto Ciccone, Erika Della Mina, María Clara Bonaglia, Renato Borgatti, Christian P. Schaaf, V. Reid Sutton, Zhilian Xia, Naftha Jelluma, Claudia Ruivenkamp, Mary Bertrand, Thomy de Ravel, Parul Jayakar, Serena Belli, Katia Rocchetti, Chiara Pantaleoni, Stefano D’Arrigo, Jeff Hughes, Sau Wai Cheung, Orsetta Zuffardi, Paweł Stankiewicz

    Vydáno 2010
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