检索结果 - Fryns, Jean‐Pierre

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  1. 1
    Pfeiffer syndrome

    Pfeiffer syndrome 由 Vogels, Annick, Fryns, Jean-Pierre

    出版 2006
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  2. 2
    Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)

    Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus) 由 Van Buggenhout, Griet, Fryns, Jean-Pierre

    出版 2006
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  3. 3
    Angelman syndrome (AS, MIM 105830)

    Angelman syndrome (AS, MIM 105830) 由 Van Buggenhout, Griet, Fryns, Jean-Pierre

    出版 2009
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  4. 4
    Piecing together the problems in diagnosing low-level chromosomal mosaicism

    Piecing together the problems in diagnosing low-level chromosomal mosaicism 由 Robberecht, Caroline, Fryns, Jean-Pierre, Vermeesch, Joris Robert

    出版 2010
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  5. 5
    Unusual Splice-Site Mutations in the RSK2 Gene and Suggestion of Genetic Heterogeneity in Coffin-Lowry Syndrome

    Unusual Splice-Site Mutations in the RSK2 Gene and Suggestion of Genetic Heterogeneity in Coffin-Lowry Syndrome 由 Zeniou, Maria, Pannetier, Solange, Fryns, Jean-Pierre, Hanauer, André

    出版 2002
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  6. 6
    Clinical utility gene card for: Aarskog–Scott syndrome (faciogenital dysplasia)

    Clinical utility gene card for: Aarskog–Scott syndrome (faciogenital dysplasia) 由 Orrico, Alfredo, Galli, Lucia, Clayton-Smith, Jill, Fryns, Jean-Pierre

    出版 2011
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  7. 7
    Primary Autosomal Recessive Microcephaly: MCPH5 Maps to 1q25-q32

    Primary Autosomal Recessive Microcephaly: MCPH5 Maps to 1q25-q32 由 Jamieson, C. Ruth, Fryns, Jean-Pierre, Jacobs, Jos, Matthijs, Gert, Abramowicz, Marc J.

    出版 2000
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  8. 8
    The causality of de novo copy number variants is overestimated

    The causality of de novo copy number variants is overestimated 由 Vermeesch, Joris R, Balikova, Irina, Schrander-Stumpel, Connie, Fryns, Jean-Pierre, Devriendt, Koenraad

    出版 2011
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  9. 9
    Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

    Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism 由 Robberecht, Caroline, Voet, Thierry, Utine, Gülen E, Schinzel, Albert, de Leeuw, Nicole, Fryns, Jean-Pierre, Vermeesch, Joris

    出版 2012
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  10. 10
    The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly

    The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly 由 Debeer, Philippe, Devriendt, Koen, De Smet, Luc, deRavel, Thomy, Gonzalez-Meneses, Antonio, Grzeschik, Karl-Heinz, Fryns, Jean-Pierre

    出版 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 由 Meloni, Ilaria, Bruttini, Mirella, Longo, Ilaria, Mari, Francesca, Rizzolio, Flavio, D’Adamo, Patrizia, Denvriendt, Koenraad, Fryns, Jean-Pierre, Toniolo, Daniela, Renieri, Alessandra

    出版 2000
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  12. 12
    Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo‐telomere formation

    Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo‐telomere formation 由 Chabchoub, Elyes, Rodríguez, Laura, Galán, Enrique, Mansilla, Elena, Martínez‐Fernandez, Maria Luisa, Martínez‐Frías, Maria Luisa, Fryns, Jean‐Pierre, Vermeesch, Joris Robert

    出版 2007
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  13. 13
    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 由 Irrthum, Alexandre, Devriendt, Koenraad, Chitayat, David, Matthijs, Gert, Glade, Conrad, Steijlen, Peter M., Fryns, Jean-Pierre, Van Steensel, Maurice A. M., Vikkula, Miikka

    出版 2003
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  14. 14
    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 由 Vanneste, Evelyne, Voet, Thierry, Melotte, Cindy, Debrock, Sophie, Sermon, Karen, Staessen, Catherine, Liebaers, Inge, Fryns, Jean-Pierre, D'Hooghe, Thomas, Vermeesch, Joris R.

    出版 2009
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  15. 15
    Adult monozygotic twins discordant for intra-uterine growth have indistinguishable genome-wide DNA methylation profiles

    Adult monozygotic twins discordant for intra-uterine growth have indistinguishable genome-wide DNA methylation profiles 由 Souren, Nicole YP, Lutsik, Pavlo, Gasparoni, Gilles, Tierling, Sascha, Gries, Jasmin, Riemenschneider, Matthias, Fryns, Jean-Pierre, Derom, Catherine, Zeegers, Maurice P, Walter, Jörn

    出版 2013
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  16. 16
    Pathogenesis of vestibular schwannoma in ring chromosome 22

    Pathogenesis of vestibular schwannoma in ring chromosome 22 由 Denayer, Ellen, Brems, Hilde, de Cock, Paul, Evans, Gareth D, Van Calenbergh, Frank, Bowers, Naomi, Sciot, Raf, Debiec-Rychter, Maria, Vermeesch, Joris V, Fryns, Jean-Pierre, Legius, Eric

    出版 2009
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  17. 17
    Observations on Intelligence and Behavior in 15 Patients with Legius Syndrome

    Observations on Intelligence and Behavior in 15 Patients with Legius Syndrome 由 Denayer, Ellen, Descheemaeker, Mie-Jef, Stewart, Douglas R, Keymolen, Kathelijn, Plasschaert, Ellen, Ruppert, Sarah L, Snow, Joseph, Thurm, Audrey E, Joseph, Lisa A, Fryns, Jean-Pierre, Legius, Eric

    出版 2011
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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 由 Tao, Jiong, Van Esch, Hilde, Hagedorn-Greiwe, M., Hoffmann, Kirsten, Moser, Bettina, Raynaud, Martine, Sperner, Jürgen, Fryns, Jean-Pierre, Schwinger, Eberhard, Gécz, Jozef, Ropers, Hans-Hilger, Kalscheuer, Vera M.

    出版 2004
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  19. 19
    Single-cell chromosomal imbalances detection by array CGH

    Single-cell chromosomal imbalances detection by array CGH 由 Le Caignec, Cedric, Spits, Claudia, Sermon, Karen, De Rycke, Martine, Thienpont, Bernard, Debrock, Sophie, Staessen, Catherine, Moreau, Yves, Fryns, Jean-Pierre, Van Steirteghem, Andre, Liebaers, Inge, Vermeesch, Joris R.

    出版 2006
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  20. 20
    Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

    Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency 由 Laumonnier, Frédéric, Ronce, Nathalie, Hamel, Ben C. J., Thomas, Paul, Lespinasse, James, Raynaud, Martine, Paringaux, Christine, van Bokhoven, Hans, Kalscheuer, Vera, Fryns, Jean-Pierre, Chelly, Jamel, Moraine, Claude, Briault, Sylvain

    出版 2002
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