Torthaí cuardaigh - J-P. Fryns

Beachtaigh na torthaí
  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. de réir J. P. Fryns

    Foilsithe / Cruthaithe 1987
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  2. 2
    Cowden syndrome.

    Cowden syndrome. de réir AD Hanssen, J. P. Fryns

    Foilsithe / Cruthaithe 1995
    Faigh an téacs iomlán Faigh an téacs iomlán
    Revisão
    Cuir le mo chuid Ceanán
    Sábháilte in:
  3. 3
    Cardiovascular malformations in Turner's and Noonan's syndrome.

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

    Foilsithe / Cruthaithe 1978
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  4. 4
    The annual incidence of DiGeorge/velocardiofacial syndrome.

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

    Foilsithe / Cruthaithe 1998
    Faigh an téacs iomlán Faigh an téacs iomlán
    Carta
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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. de réir Ann Swillen, K Devriendt, Eric Legius, Bénédicte Eyskens, M Dumoulin, Marc Gewillig, J P Fryns

    Foilsithe / Cruthaithe 1997
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir Marleen Decruyenaere, Gerry Evers‐Kiebooms, T Cloostermans, Andrea Boogaerts, Koen Demyttenaere, René Dom, J. P. Fryns

    Foilsithe / Cruthaithe 2003
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir Annick Vogels, Jenneke van den Ende, Kathelijn Keymolen, Geert Mortier, Koenraad Devriendt, Eric Legius, J P Fryns

    Foilsithe / Cruthaithe 2003
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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. de réir Marleen Decruyenaere, Gerry Evers‐Kiebooms, Andrea Boogaerts, J J Cassiman, T Cloostermans, Koen Demyttenaere, R. Dom, J. P. Fryns, Herman Van den Berghe

    Foilsithe / Cruthaithe 1996
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir Evelyne Vanneste, Thierry Voet, Cindy Melotte, Sophie Debrock, Karen Sermon, C. Staessen, I. Liebaers, J P Fryns, Thomas D’Hooghe, Joris Vermeesch

    Foilsithe / Cruthaithe 2009
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir Bernard Thienpont, Luc Mertens, Thomy de Ravel, B. Eyskens, Derize Boshoff, N Maas, J. P. Fryns, Marc Gewillig, Joris Vermeesch, K. Devriendt

    Foilsithe / Cruthaithe 2007
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir Irina Balikova, A‐E Lehesjoki, Thomy de Ravel, Bernard Thienpont, Kate Chandler, Jill Clayton‐Smith, A L Träskelin, J-P. Fryns, Joris Vermeesch

    Foilsithe / Cruthaithe 2009
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  12. 12
    Single-cell chromosomal imbalances detection by array CGH

    Single-cell chromosomal imbalances detection by array CGH de réir 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

    Foilsithe / Cruthaithe 2006
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  13. 13
    The C20orf133 gene is disrupted in a patient with Kabuki syndrome

    The C20orf133 gene is disrupted in a patient with Kabuki syndrome de réir 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

    Foilsithe / Cruthaithe 2007
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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. de réir 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

    Foilsithe / Cruthaithe 1993
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir 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

    Foilsithe / Cruthaithe 2006
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir 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

    Foilsithe / Cruthaithe 2009
    Faigh an téacs iomlán Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir 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

    Foilsithe / Cruthaithe 2005
    Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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... de réir 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

    Foilsithe / Cruthaithe 2013
    Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir 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

    Foilsithe / Cruthaithe 2006
    Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:
  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 de réir 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

    Foilsithe / Cruthaithe 2011
    Faigh an téacs iomlán
    Artigo
    Cuir le mo chuid Ceanán
    Sábháilte in:

Uirlisí cuardaigh: