检索结果 - Valérie Désilets

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  1. 1
    Whole‐genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype

    Whole‐genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype 由 Guylaine D’Amours, Zoha Kibar, Géraldine Mathonnet, Raouf Fetni, F. Tihy, Valérie Désilets, Sonia Nizard, JL Michaud, Emmanuelle Lemyre

    出版 2011
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    Artigo
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  2. 2
    Functional Zebrafish Studies Based on Human Genotyping Point to Netrin-1 as a Link Between Aberrant Cardiovascular Development and Thyroid Dysgenesis

    Functional Zebrafish Studies Based on Human Genotyping Point to Netrin-1 as a Link Between Aberrant Cardiovascular Development and Thyroid Dysgenesis 由 Robert Opitz, Marc‐Phillip Hitz, Isabelle Vandernoot, Achim Trubiroha, Rasha Abu‐Khudir, Mark E. Samuels, Valérie Désilets, Sabine Costagliola, Grégor Andelfinger, Johnny Deladoëy

    出版 2014
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    Artigo
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  3. 3
    Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome

    Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome 由 John J. Mitchell, Zubin Punthakee, Bernard Lo, C. Bernard, Karen Chong, Catherine E. Newman, Lola Cartier, Valérie Désilets, E. Cutz, Inger Lise Skog Hansen, P Riley, Constantin Polychronakos

    出版 2004
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    Artigo
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  4. 4
    Loss-of-function de novo mutations play an important role in severe human neural tube defects

    Loss-of-function de novo mutations play an important role in severe human neural tube defects 由 Philippe Lemay, Marie-Claude Guyot, Élizabeth Tremblay, Alexandre Dionne‐Laporte, Dan Spiegelman, Édouard Henrion, Ousmane Diallo, Patrizia De Marco, Elisa Merello, Christine Massicotte, Valérie Désilets, Jacques L. Michaud, Guy A. Rouleau, Valeria Capra, Zoha Kibar

    出版 2015
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    Artigo
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  5. 5
    RETIRED: Investigation and Management of Non-immune Fetal Hydrops

    RETIRED: Investigation and Management of Non-immune Fetal Hydrops 由 Valérie Désilets, François Audibert, R. Douglas Wilson, François Audibert, Jo‐Ann Brock, June C. Carroll, Lola Cartier, Alain Gagnon, Jo-Ann Johnson, Sylvie Langlois, William MacDonald, Lynn Murphy‐Kaulbeck, Nanette Okun, Melanie Pastuck, Vyta Senikas

    出版 2013
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    Revisão
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  6. 6
    Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

    Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing 由 Sébastien Levesque, Christiane Auray‐Blais, Elaine Gravel, Michel Boutin, Laura Dempsey-Nunez, Pierre‐Étienne Jacques, Sébastien Chénier, Sandrine Larue, Marie‐France Rioux, Walla Al‐Hertani, Amélie Nadeau, Jean Mathieu, Bruno Maranda, Valérie Désilets, Paula J. Waters, Joan Keutzer, Stephanie Austin, Priya S. Kishnani

    出版 2016
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    Artigo
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  7. 7
    Mutations in<i>TMEM231</i>cause Joubert syndrome in French Canadians

    Mutations in<i>TMEM231</i>cause Joubert syndrome in French Canadians 由 Myriam Srour, Fadi F. Hamdan, Jeremy Schwartzentruber, Lysanne Patry, Luis H. Ospina, Michael Shevell, Valérie Désilets, Sylvia Dobrzeniecka, Géraldine Mathonnet, Emmanuelle Lemyre, Christine Massicotte, Damian Labuda, Dina Amrom, Eva Andermann, Guillaume Sébire, Bruno Maranda, FORGE Canada Consortium, Guy A. Rouleau, Jacek Majewski, Jacques L. Michaud

    出版 2012
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    Artigo
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  8. 8
    Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

    Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population 由 Myriam Srour, Jeremy Schwartzentruber, Fadi F. Hamdan, Luis H. Ospina, Lysanne Patry, Damian Labuda, Christine Massicotte, Sylvia Dobrzeniecka, José‐Mario Capo‐Chichi, Simon Papillon‐Cavanagh, Mark E. Samuels, Kym M. Boycott, Michael Shevell, Rachel Laframboise, Valérie Désilets, Bruno Maranda, Guy A. Rouleau, Jacek Majewski, Jacques L. Michaud

    出版 2012
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