検索結果 - Rachel Laframboise

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  1. 1
    A Search for the Possible Molecular Mechanisms of Thyroid Dysgenesis: Sex Ratios and Associated Malformations

    A Search for the Possible Molecular Mechanisms of Thyroid Dysgenesis: Sex Ratios and Associated Malformations 著者: Heidi Devos, Celia Rodd, Nancy Gagné, Rachel Laframboise, Guy Van Vliet

    出版事項 1999
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    Artigo
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  2. 2
    Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

    Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. 著者: Daniel J. Phaneuf, Marie Lambert, Rachel Laframboise, Grant A. Mitchell, Francine Lettre, Robert M. Tanguay

    出版事項 1992
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    Artigo
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  3. 3
    Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (<i>HGSNAT</i>) gene

    Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (<i>HGSNAT</i>) gene 著者: Matthew Feldhammer, Stéphanie Durand, Lenka Mrázová, Renée-Myriam Boucher, Rachel Laframboise, Robert Steinfeld, J. E. Wraith, Helen Michelakakis, Otto P. van Diggelen, Martin Hřebı́ček, Stanislav Kmoch, Alexey V. Pshezhetsky

    出版事項 2009
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    Revisão
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  4. 4
    CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

    CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems 著者: Sébastien Chénier, Grace Yoon, Bob Argiropoulos, Julie Lauzon, Rachel Laframboise, Joo Wook Ahn, Caroline Mackie Ogilvie, Anath C. Lionel, Christian R. Marshall, Andrea K. Vaags, Bita Hashemi, Karine Boisvert, Géraldine Mathonnet, Frédérique Tihy, Joyce So, Stephen W. Scherer, Emmanuelle Lemyre, Dimitri J. Stavropoulos

    出版事項 2014
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    Artigo
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  5. 5
    Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

    Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population 著者: 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

    出版事項 2012
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    Artigo
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  6. 6
    Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer

    Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer 著者: Jacques Simard, Martine Dumont, Anne-Marie Moisan, Valérie Gaborieau, Hélène Vézina, Francine Durocher, Jocelyne Chiquette, Marie Plante, Denise Avard, Paul Bessette, Carl Brousseau, Michel Dorval, Béatrice Godard, Louis Houde, Yann Joly, Marie‐Pier Lajoie, Gerard Leblanc, Jean‐Pierre Lépine, Bernard Lespérance, H. Malouin, Jean Parboosingh, Roxane Pichette, Louise Provencher, Josée Rhéaume, Daniel Sinnett, C. Samson, J.-C. Simard, Martine Tranchant, Patricia Voyer, Douglas F. Easton, Sean V. Tavtigian, Bartha Maria Knoppers, Rachel Laframboise, Peter J. Bridge, David E. Goldgar

    出版事項 2006
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    Artigo
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  7. 7
    Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

    Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 著者: Myriam Srour, Fadi F. Hamdan, Dianalee McKnight, Erica E. Davis, Hanna Mandel, Jeremy Schwartzentruber, Brissa Martin, Lysanne Patry, Christina Nassif, Alexandre Dionne‐Laporte, Luis H. Ospina, Emmanuelle Lemyre, Christine Massicotte, Rachel Laframboise, Bruno Maranda, Damian Labuda, Jean‐Claude Décarie, Françoise Rypens, Dorith Goldsher, Catherine Fallet‐Bianco, Jean‐François Soucy, Anne‐Marie Laberge, Catalina Maftei, Kym M. Boycott, Bernard Brais, Renée‐Myriam Boucher, Guy A. Rouleau, Nicholas Katsanis, Jacek Majewski, Orly Elpeleg, Mary K. Kukolich, Stavit A. Shalev, Jacques L. Michaud

    出版事項 2015
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    Artigo
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