検索結果 - J-P. Fryns

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  1. 1
    Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia.

    Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. 著者: J. P. Fryns

    出版事項 1987
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    Artigo
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  2. 2
    Cowden syndrome.

    Cowden syndrome. 著者: AD Hanssen, J. P. Fryns

    出版事項 1995
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    Revisão
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  3. 3
    Cardiovascular malformations in Turner's and Noonan's syndrome.

    Cardiovascular malformations in Turner's and Noonan's syndrome. 著者: Lucas G. Van Der Hauwaert, J P Fryns, M Dumoulin, N. Logghe

    出版事項 1978
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    Artigo
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  4. 4
    The annual incidence of DiGeorge/velocardiofacial syndrome.

    The annual incidence of DiGeorge/velocardiofacial syndrome. 著者: Koenraad Devriendt, J. P. Fryns, Geert Mortier, M N van Thienen, Kathelijn Keymolen

    出版事項 1998
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    Carta
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  5. 5
    Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.

    Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. 著者: Ann Swillen, K Devriendt, Eric Legius, Bénédicte Eyskens, M Dumoulin, Marc Gewillig, J P Fryns

    出版事項 1997
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    Artigo
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  6. 6
    Psychological distress in the 5-year period after predictive testing for Huntington's disease

    Psychological distress in the 5-year period after predictive testing for Huntington's disease 著者: Marleen Decruyenaere, Gerry Evers‐Kiebooms, T Cloostermans, Andrea Boogaerts, Koen Demyttenaere, René Dom, J. P. Fryns

    出版事項 2003
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    Artigo
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  7. 7
    Minimum prevalence, birth incidence and cause of death for Prader–Willi syndrome in Flanders

    Minimum prevalence, birth incidence and cause of death for Prader–Willi syndrome in Flanders 著者: Annick Vogels, Jenneke van den Ende, Kathelijn Keymolen, Geert Mortier, Koenraad Devriendt, Eric Legius, J P Fryns

    出版事項 2003
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    Artigo
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  8. 8
    Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making.

    Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making. 著者: Marleen Decruyenaere, Gerry Evers‐Kiebooms, Andrea Boogaerts, J J Cassiman, T Cloostermans, Koen Demyttenaere, R. Dom, J. P. Fryns, Herman Van den Berghe

    出版事項 1996
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    Artigo
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  9. 9
    What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate

    What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate 著者: Evelyne Vanneste, Thierry Voet, Cindy Melotte, Sophie Debrock, Karen Sermon, C. Staessen, I. Liebaers, J P Fryns, Thomas D’Hooghe, Joris Vermeesch

    出版事項 2009
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    Artigo
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  10. 10
    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 著者: Bernard Thienpont, Luc Mertens, Thomy de Ravel, B. Eyskens, Derize Boshoff, N Maas, J. P. Fryns, Marc Gewillig, Joris Vermeesch, K. Devriendt

    出版事項 2007
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    Artigo
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  11. 11
    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 著者: Irina Balikova, A‐E Lehesjoki, Thomy de Ravel, Bernard Thienpont, Kate Chandler, Jill Clayton‐Smith, A L Träskelin, J-P. Fryns, Joris Vermeesch

    出版事項 2009
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    Artigo
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  12. 12
    Single-cell chromosomal imbalances detection by array CGH

    Single-cell chromosomal imbalances detection by array CGH 著者: Cédric Le Caignec, Claudia Spits, Karen Sermon, Martine De Rycke, Bernard Thienpont, Sophie Debrock, C. Staessen, Yves Moreau, J. P. Fryns, A. Van Steirteghem, I. Liebærs, Joris Vermeesch

    出版事項 2006
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    Artigo
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  13. 13
    The C20orf133 gene is disrupted in a patient with Kabuki syndrome

    The C20orf133 gene is disrupted in a patient with Kabuki syndrome 著者: Nicole Maas, Tom Van de Putte, Cindy Melotte, Annick Francis, Connie Schrander‐Stumpel, Damien Sanlaville, David Geneviève, Stanislas Lyonnet, Boyan Dimitrov, Koenraad Devriendt, J P Fryns, Joris Vermeesch

    出版事項 2007
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    Artigo
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  14. 14
    Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.

    Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. 著者: Bert Ba de Vries, J. P. Fryns, Merlin G. Butler, F Canziani, Eveline Wesby–van Swaay, J. O. Van Hemel, Ben A. Oostra, D. J. J. Halley, Martinus F. Niermeijer

    出版事項 1993
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    Artigo
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  15. 15
    Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome

    Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome 著者: Petr Vyleťal, Martina Kublová, Marie Hubálek Kalbáčová, Kateřina Hodaňová, Veronika Barešová, Blanka Stibůrková, Jakub Sikora, Helena Hůlková, J Živný, Jacek Majewski, Anne Simmonds, J. P. Fryns, Gopalakrishnan Venkat‐Raman, M. Elleder, Stanislav Kmoch

    出版事項 2006
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    Artigo
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  16. 16
    Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

    Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism 著者: Frédéric Laumonnier, Cheryl Shoubridge, Catherine Antar, Lam Son Nguyen, Hilde Van Esch, Tjitske Kleefstra, Sylvain Briault, J. P. Fryns, B Hamel, Jamel Chelly, Hans‐Hilger Ropers, Nathalie Ronce, S. Blesson, Claude Moraine, Jozef Gécz, Martine Raynaud

    出版事項 2009
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    Artigo
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  17. 17
    Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome

    Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome 著者: Sibel Kantarci, David Casavant, Carlos E. Prada, Matthew Russell, Janice L. B. Byrne, Louise Wilkins Haug, Rebecca B. Jennings, Simon M. Manning, Theonia K. Boyd, J. P. Fryns, Lewis B. Holmes, Patricia K. Donahoe, C. Lee, Virginia Kimonis, Barbara R. Pober

    出版事項 2005
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    Artigo
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  18. 18
    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... 著者: 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

    出版事項 2013
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    Artigo
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  19. 19
    A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

    A molecular and clinical study of Larsen syndrome caused by mutations in FLNB 著者: Louise S. Bicknell, Claire Farrington‐Rock, Yousef Shafeghati, Patrick Rump, Yasemin Alanay, Yves Alembik, Navid Almadani, Helen V. Firth, Mohamad Hasan Kariminejad, Chong Ae Kim, Kathryn Leask, Melissa K. Maisenbacher, Ellen Moran, John Pappas, Paolo Prontera, Thomy de Ravel, J. P. Fryns, Elizabeth Sweeney, Alan Fryer, Sheila Unger, Louise C. Wilson, Ralph S. Lachman, David L. Rimoin, Daniel H. Cohn, Deborah Krakow, Stephen P. Robertson

    出版事項 2006
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    Artigo
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  20. 20
    Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

    Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1 著者: Anne Slavotinek, Sergio E. Baranzini, Denny Schanze, Cassandre Labelle‐Dumais, Kieran M. Short, Richard C. Chao, Mani Yavi, Emilia K. Bijlsma, Catherine Chu, Stacy L. Musone, Amanda Wheatley, Pui‐Yan Kwok, Sandra L. Marles, J. P. Fryns, A. Murat Maga, Mohamed G. Hassan, Douglas B. Gould, Lohith Madireddy, Chumei Li, Timothy C. Cox, Ian Smyth, Albert E. Chudley, Martin Zenker

    出版事項 2011
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    Artigo
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