Torthaí cuardaigh - Alain Verloès

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  1. 1
    Updated diagnostic criteria for CHARGE syndrome: A proposal

    Updated diagnostic criteria for CHARGE syndrome: A proposal de réir Alain Verloès

    Foilsithe / Cruthaithe 2005
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  2. 2
    CHARGE syndrome: an update

    CHARGE syndrome: an update de réir Damien Sanlaville, Alain Verloès

    Foilsithe / Cruthaithe 2007
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    Revisão
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  3. 3
    Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees

    Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees de réir Alain Verloès, Natzi Sakalihasan, L Koulischer, Raymond Limet

    Foilsithe / Cruthaithe 1995
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  4. 4
    Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

    Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis de réir José Brás, Alain Verloès, Susanne A. Schneider, Sara Mole, Rita Guerreiro

    Foilsithe / Cruthaithe 2012
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  5. 5
    Golgipathies in Neurodevelopment: A New View of Old Defects

    Golgipathies in Neurodevelopment: A New View of Old Defects de réir Sowmyalakshmí Rasika, Sandrine Passemard, Alain Verloès, Pierre Gressèns, Vincent El Ghouzzi

    Foilsithe / Cruthaithe 2018
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  6. 6
    Elements of morphology: Standard terminology for the lips, mouth, and oral region

    Elements of morphology: Standard terminology for the lips, mouth, and oral region de réir John C. Carey, M. Michael Cohen, Cynthia J. Curry, Koenraad Devriendt, Lewis B. Holmes, Alain Verloès

    Foilsithe / Cruthaithe 2009
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  7. 7
    Paternal Uniparental Disomy for Chromosome 1 Revealed by Molecular Analysis of a Patient with Pycnodysostosis

    Paternal Uniparental Disomy for Chromosome 1 Revealed by Molecular Analysis of a Patient with Pycnodysostosis de réir Bruce D. Gelb, Judith P. Willner, Teresa Dunn, Nataline B. Kardon, Alain Verloès, Jacques Poncin, Robert J. Desnick

    Foilsithe / Cruthaithe 1998
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  8. 8
    Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

    Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother de réir Anne‐Claude Tabet, Marion Pilorge, Richard Delorme, Frédérique Amsellem, Jean-Marc Pinard, Marion Leboyer, Alain Verloès, Brigitte Benzacken, Catalina Betancur

    Foilsithe / Cruthaithe 2012
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  9. 9
    Autism, language delay and mental retardation in a patient with 7q11 duplication

    Autism, language delay and mental retardation in a patient with 7q11 duplication de réir Christel Depienne, Delphine Héron, Catalina Betancur, B Benyahia, Oriane Trouillard, Delphine Bouteiller, Alain Verloès, Eric LeGuern, Marion Leboyer, Alexis Brice

    Foilsithe / Cruthaithe 2007
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  10. 10
    Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

    Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. de réir Lydie Bürglen, Jeanne Amiel, Louis Viollet, S. Lefebvre, P Burlet, Olivier Clermont, Valérie Raclin, P. Landrieu, Alain Verloès, Arnold Münnich, Judith Melki

    Foilsithe / Cruthaithe 1996
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  11. 11
    Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

    Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations de réir Nataliya Di Donato, Andreas Rump, Rainer Koenig, Vazken M. Der Kaloustian, Fahed Halal, K. Sonntag, Crystal Krause, Karl Hackmann, Gabriele Hahn, Evelin Schröck, Alain Verloès

    Foilsithe / Cruthaithe 2013
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  12. 12
    Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases

    Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases de réir Jacques Poncin, Roger Abs, Brigitte Velkeniers, M Bonduelle, Marc Abramowicz, Jean‐Jacques Legros, Alain Verloès, Michel Meurisse, Luc Van Gaal, Christine Verellen, L Koulischer, Albert Beckers

    Foilsithe / Cruthaithe 1999
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  13. 13
    Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype

    Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype de réir Sylvie Tordjman, George M. Anderson, Michel Botbol, Annick Toutain, Pierre Sarda, Michèle Carlier, Pascale Saugier‐Veber, Clarisse Baumann, David Cohen, Céline Lagneaux, Anne‐Claude Tabet, Alain Verloès

    Foilsithe / Cruthaithe 2012
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  14. 14
    Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype?

    Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype? de réir Judith Allanson, Göran Annerén, Yoki Aoki, Christine M. Armour, Marie‐Louise Bondeson, Hélène Cavé, Karen W. Gripp, Bronwyn Kerr, Anna‐Maja Nyström, Katia Sol‐Church, Alain Verloès, Martin Zenker

    Foilsithe / Cruthaithe 2011
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  15. 15
    Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

    Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons de réir Brian Harding, Amanda Moccia, Séverine Drunat, Omar Soukarieh, Hélène Tubeuf, Lyn S. Chitty, Alain Verloès, Pierre Gressèns, Vincent El Ghouzzi, Sylvie Joriot, Ferdinando Di Cunto, Alexandra Martins, Sandrine Passemard, Stephanie Bielas

    Foilsithe / Cruthaithe 2016
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  16. 16
    Mutation screening of the <i>PTEN</i> gene in patients with autism spectrum disorders and macrocephaly

    Mutation screening of the <i>PTEN</i> gene in patients with autism spectrum disorders and macrocephaly de réir Joseph D. Buxbaum, Guiqing Cai, Pauline Chaste, Gudrun Nygren, Juliet Goldsmith, Jennifer Reichert, Henrik Anckarsäter, Maria Råstam, Christopher J. Smith, Jeremy M. Silverman, Eric Hollander, Marion Leboyer, Christopher Gillberg, Alain Verloès, Catalina Betancur

    Foilsithe / Cruthaithe 2007
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  17. 17
    Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee

    Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee de réir David R. Adams, Clara D. van Karnebeek, Sergi Beltrán, Víctor Faúndes, Saumya Shekhar Jamuar, Sally Ann Lynch, Guillem Pintos‐Morell, Ratna Dua Puri, Ruty Mehrian‐Shai, Charles A. Steward, Birutė Tumienė, Alain Verloès

    Foilsithe / Cruthaithe 2024
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  18. 18
    Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

    Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene de réir Lionel Van Maldergem, H. Annika Siitonen, Nadine Jalkh, Éliane Chouery, M De Roy, Valérie Delague, Maximilian Muenke, Ethylin Wang Jabs, Juanliang Cai, LL Wang, Sharon E. Plon, Catherine Fourneau, Marjo Kestilä, Y. Gillerot, André Mégarbané, Alain Verloès

    Foilsithe / Cruthaithe 2005
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  19. 19
    Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

    Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes de réir Claire Redin, Stéphanie Le Gras, O. M'hamdi, Véronique Geoffroy, Corinne Stoetzel, Marie‐Claire Vincent, Pietro Chiurazzi, Didier Lacombe, Inès Ouertani, Florence Petit, Marianne Till, Alain Verloès, Bernard Jost, Habiba Chaâbouni, Hélène Dollfus, Jean‐Louis Mandel, Jean Muller

    Foilsithe / Cruthaithe 2012
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  20. 20
    Growth patterns of patients with Noonan syndrome: correlation with age and genotype

    Growth patterns of patients with Noonan syndrome: correlation with age and genotype de réir Catie Cessans, Virginie Ehlinger, Catherine Arnaud, Armelle Yart, Yline Capri, Pascal Barat, B. Cammas, Didier Lacombe, R. Coutant, Albert David, Sabine Baron, Jacques Weill, Bruno Leheup, Marc Nicolino, Jean‐Pierre Salles, Alain Verloès, Maïthé Tauber, Hélène Cavé, Thomas Édouard

    Foilsithe / Cruthaithe 2016
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