检索结果 - J.‐F. Soucy

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    OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

    OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype 由 KF Schilter, A Schneider, Tanya Bardakjian, J-F Soucy, RC Tyler, Linda M. Reis, EV Semina

    出版 2010
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    A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

    A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome 由 Julie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F. Hamdan, Steven M. Harrison, Linda A. Baker, Françoise Couture, Isabelle Thiffault, Réda Ouazzani, Mark E. Samuels, Grant A. Mitchell, Guy A. Rouleau, Jacques L. Michaud, J.‐F. Soucy

    出版 2014
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