Rezultati - Jean‐Pierre Fryns

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  1. 1
    Pfeiffer syndrome

    Pfeiffer syndrome od Annick Vogels, Jean‐Pierre Fryns

    Izdano 2006
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  2. 2
    Angelman syndrome (AS, MIM 105830)

    Angelman syndrome (AS, MIM 105830) od Griet Van Buggenhout, Jean‐Pierre Fryns

    Izdano 2009
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  3. 3
    Carrier testing in minors: a systematic review of guidelines and position papers

    Carrier testing in minors: a systematic review of guidelines and position papers od Pascal Borry, Jean‐Pierre Fryns, Paul Schotsmans, Kris Dierickx

    Izdano 2005
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  4. 4
    Diagnosis of miscarriages by molecular karyotyping: Benefits and pitfalls

    Diagnosis of miscarriages by molecular karyotyping: Benefits and pitfalls od Caroline Robberecht, Vicky Schuddinck, Jean‐Pierre Fryns, Joris Vermeesch

    Izdano 2009
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  5. 5
    The East Flanders Prospective Twin Survey (EFPTS)

    The East Flanders Prospective Twin Survey (EFPTS) od Cathérine Derom, Robert Vlietinck, Evert Thiery, Fernand Leroy, Jean‐Pierre Fryns, R. Derom

    Izdano 2002
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  6. 6
    Genetic and Phenotypic Heterogeneity in Patients with Mandibuloacral Dysplasia-Associated Lipodystrophy

    Genetic and Phenotypic Heterogeneity in Patients with Mandibuloacral Dysplasia-Associated Lipodystrophy od Vinaya Simha, Anil K. Agarwal, Elif A Oral, Jean‐Pierre Fryns, Abhimanyu Garg

    Izdano 2003
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  7. 7
    The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation

    The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation od Marleen Decruyenaere, Gerry Evers‐Kiebooms, Andrea Boogaerts, Kristien Philippe, Koen Demyttenaere, René Dom, Wim Vandenberghe, Jean‐Pierre Fryns

    Izdano 2007
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  8. 8
    Large deletions of the APC gene in 15% of mutation‐negative patients with classical polyposis (FAP): A Belgian study

    Large deletions of the APC gene in 15% of mutation‐negative patients with classical polyposis (FAP): A Belgian study od G Michils, Sabine Tejpar, Ronald Thoelen, Eric Van Cutsem, Joris Vermeesch, Jean‐Pierre Fryns, Eric Legius, Gert Matthijs

    Izdano 2005
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  9. 9
    Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

    Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients od Alfredo Orrico, Lucia Galli, Maria Luigia Cavaliere, Livia Garavelli, Jean‐Pierre Fryns, Ellen Crushell, Maria Michela Rinaldi, Ana Medeira, Vincenzo Sorrentino

    Izdano 2003
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  10. 10
    Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism

    Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism od Dries Castermans, Joris Vermeesch, Jean‐Pierre Fryns, Jean Steyaert, Wim J.M. Van de Ven, John W.M. Creemers, Koenraad Devriendt

    Izdano 2007
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  11. 11
    A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males

    A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males od Ilaria Meloni, Mirella Bruttini, Ilaria Longo, Francesca Mari, Flavio Rizzolio, Patrizia D’Adamo, Koenraad Denvriendt, Jean‐Pierre Fryns, Daniela Toniolo, Alessandra Renieri

    Izdano 2000
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  12. 12
    Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of<i>XLMR</i>genes

    Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of<i>XLMR</i>genes od Guy Froyen, Hilde Van Esch, Marijke Bauters, Karen Hollanders, Suzanna G.M. Frints, Joris Vermeesch, Koenraad Devriendt, Jean‐Pierre Fryns, Peter Marynen

    Izdano 2007
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  13. 13
    Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis

    Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis od Hilde Van Esch, Karen Hollanders, Liesbeth Badisco, Cindy Melotte, Paul Van Hummelen, Joris Vermeesch, Koenraad Devriendt, Jean‐Pierre Fryns, Peter Marynen, Guy Froyen

    Izdano 2005
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  14. 14
    Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia

    Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia od Alexandre Irrthum, Koenraad Devriendt, David Chitayat, Gert Matthijs, Conrad P. Glade, Peter M. Steijlen, Jean‐Pierre Fryns, Maurice A. M. Van Steensel, Miikka Vikkula

    Izdano 2003
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  15. 15
    Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos

    Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos od Thierry Voet, Evelyne Vanneste, Niels van der Aa, Cindy Melotte, Sigrun Jackmaert, T Vandendael, Matthias Declercq, Sophie Debrock, Jean‐Pierre Fryns, Yves Moreau, Thomas D’Hooghe, Joris Vermeesch

    Izdano 2011
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  16. 16
    Delineation of the Critical Deletion Region for Congenital Heart Defects, on Chromosome 8p23.1

    Delineation of the Critical Deletion Region for Congenital Heart Defects, on Chromosome 8p23.1 od Koenraad Devriendt, Gert Matthijs, Roeland Van Dael, Marc Gewillig, Bénédicte Eyskens, Helle Hjalgrim, Brigitte Dolmer, Julie McGaughran, Karen Brøndum‐Nielsen, Peter Marynen, Jean‐Pierre Fryns, Joris Vermeesch

    Izdano 1999
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  17. 17
    Cobalamin disorder Cbl‐C presenting with late‐onset thrombotic microangiopathy

    Cobalamin disorder Cbl‐C presenting with late‐onset thrombotic microangiopathy od Johan L.K. Van Hove, Rita Van Damme‐Lombaerts, Stephanie Grünewald, Heidi Peters, Boudewijn Van Damme, Jean‐Pierre Fryns, Jozef Arnout, Ron A. Wevers, E. R. Baumgartner, Brian Fowler

    Izdano 2002
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  18. 18
    Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

    Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation od Jiong Tao, Hilde Van Esch, M. Hagedorn-Greiwe, Kirsten Hoffmann, Bettina A. Moser, Martine Raynaud, Jürgen Sperner, Jean‐Pierre Fryns, E. Schwinger, Jozef Gécz, Hans‐Hilger Ropers, Vera M. Kalscheuer

    Izdano 2004
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  19. 19
    Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

    Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males od Hilde Van Esch, Marijke Bauters, Jaakko Ignatius, Mieke Jansen, Martine Raynaud, Karen Hollanders, Dorien Lugtenberg, Thierry Bienvenu, Lars Riff Jensen, Jozef Gécz, Claude Moraine, Peter Marynen, Jean‐Pierre Fryns, Guy Froyen

    Izdano 2005
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  20. 20
    High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

    High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation od Efraim H. Rosenberg, Lígia S. Almeida, Tjitske Kleefstra, Rose S. deGrauw, Helger G. Yntema, Nadia Bahi, Claude Moraine, Hans‐Hilger Ropers, Jean‐Pierre Fryns, Ton J. deGrauw, Cornelis Jakobs, Gajja S. Salomons

    Izdano 2004
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