檢索結果 - Françoise Rypens
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Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis 由 Sarah Boissel, Catherine Fallet‐Bianco, David Chitayat, Valérie Kremer, Christina Nassif, Françoise Rypens, Marie‐Ange Delrue, Dorothée Dal Soglio, Luc L. Oligny, Natalie Patey, Elisabeth Flori, M. Cloutier, David A. Dyment, Philippe M. Campeau, Aspasia Karalis, Sonia Nizard, William D. Fraser, François Audibert, Emmanuelle Lemyre, Guy A. Rouleau, Fadi F. Hamdan, Zoha Kibar, Jacques L. Michaud
出版 2017Artigo -
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Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 由 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 2015Artigo
相關主題
Biology
Gene
Genetics
Anatomy
Atresia
Bioinformatics
Ciliopathies
Dysgenesis
Ecology
Exome
Exome sequencing
Fetus
Genetic heterogeneity
Identification (biology)
Internal medicine
Joubert syndrome
Kidney
Medicine
Pathology
Phenotype
Pregnancy
Prenatal diagnosis
Psychology
Renal agenesis
Tracheoesophageal fistula