نتائج البحث - Kathelijn Keymolen

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  1. 1
    The annual incidence of DiGeorge/velocardiofacial syndrome.

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

    منشور في 1998
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    Carta
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  2. 2
    APCAD Part 2: A Novel Method for Detection of Meiotic Aneuploidy in Preimplantation Embryos

    APCAD Part 2: A Novel Method for Detection of Meiotic Aneuploidy in Preimplantation Embryos حسب Pieter Verdyck, Veerle Berckmoes, Elia Fernandez Gallardo, Kathelijn Keymolen, Catharina Olsen, Martine De Rycke

    منشور في 2025
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  3. 3
    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 حسب Annick Vogels, Jenneke van den Ende, Kathelijn Keymolen, Geert Mortier, Koenraad Devriendt, Eric Legius, J P Fryns

    منشور في 2003
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  4. 4
    A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia

    A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia حسب Éva Morava, Renate Zeevaert, Eckhard Korsch, Karin Huijben, Suzan Wopereis, Gert Matthijs, Kathelijn Keymolen, Dirk J. Lefeber, Linda De Meırleır, Ron A. Wevers

    منشور في 2007
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  5. 5
    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... حسب 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

    منشور في 2013
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  6. 6
    Osteopathia striata with cranial sclerosis owing to <i>WTX</i> gene defect

    Osteopathia striata with cranial sclerosis owing to <i>WTX</i> gene defect حسب Bram Perdu, Fenna de Freitas, Suzanna G.M. Frints, Meyke Schouten, Connie Schrander‐Stumpel, Mafalda Barbosa, Jorge Pinto‐Basto, Margarida Reis‐Lima, Marie‐Christine de Vernejoul, Kristin Becker, Marie-Louise Freckmann, Kathelijn Keymolen, Eric Haan, Ravi Savarirayan, Rainer Koenig, Bernhard Zabel, Filip Vanhoenacker, Wim Van Hul

    منشور في 2009
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  7. 7
    CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

    CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy حسب Lise Barbé, Stella Lanni, Arturo López Castel, Silvie Franck, Claudia Spits, Kathelijn Keymolen, Sara Seneca, Stéphanie Tomé, Ioana Miron, Julie Letourneau, Minggao Liang, Sanaa Choufani, Rosanna Weksberg, Michael D. Wilson, Zdeněk Sedláček, Cynthia Gagnon, Zuzana Mušová, David Chitayat, Patrick Shannon, Jean Mathieu, Karen Sermon, Christopher E. Pearson

    منشور في 2017
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  8. 8
    Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

    Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline حسب Katia Hardies, Yiying Cai, Claude Jardel, Anna Jansen, Mian Cao, Patrick May, Tania Djémié, C. Hachon Le Camus, Kathelijn Keymolen, Tine Deconinck, Vikas Bhambhani, Catherine Long, Samin A. Sajan, Katherine L. Helbig, Arvid Suls, Rudi Balling, Ingo Helbig, Peter De Jonghe, Christel Depienne, Pietro De Camilli, Sarah Weckhuysen

    منشور في 2016
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  9. 9
    GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

    GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy حسب Christiane Kuschal, Elena Botta, Donata Orioli, John J. DiGiovanna, Sara Seneca, Kathelijn Keymolen, Deborah Tamura, E. R. Heller, Sikandar G. Khan, Giuseppina Caligiuri, Manuela Lanzafame, Tiziana Nardò, Roberta Ricotti, Fiorenzo A. Peverali, Robert M. Stephens, Yongmei Zhao, Alan R. Lehmann, Laura Baranello, David Levens, Kenneth H. Kraemer, Miria Stefanini

    منشور في 2016
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  10. 10
    The mutation spectrum in RECQL4 diseases

    The mutation spectrum in RECQL4 diseases حسب H. Annika Siitonen, Jenni Sotkasiira, Martine Biervliet, Abdelmadjid Benmansour, Yline Capri, Valérie Cormier‐Daire, Barbara F. Crandall, Katariina Hannula-Jouppi, Raoul C. M. Hennekam, Denise Herzog, Kathelijn Keymolen, Marita Lipsanen‐Nyman, Peter Miny, Sharon E. Plon, Stefan Riedl, Ajoy Sarkar, Fernando Regla Vargas, Alain Verloès, Lisa L. Wang, Helena Kääriäinen, Marjo Kestilä

    منشور في 2008
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