检索结果 - Céline Gomes

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    Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies 由 Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, Céline Gomes, Gian Luigi Ardissino, Enrico Bertini, Eugen Boltshauser, Pierangela Castorina, Stefano D’Arrigo, Rita Fischetto, Brigitte Leroy, Philippe Loget, Maryse Bonnière, Lena Starck, Julia Tantau, Barbara Gentilin, Silvia Majore, Dominika Swistun, E. Flori, Faustina Lalatta, Chiara Pantaleoni, Johannes Penzien, Paola Grammatico, the International JSRD Study Group, Bruno Dallapiccola, Joseph G. Gleeson, Tania Attié‐Bitach, Enza Maria Valente

    出版 2010
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    KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

    KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes 由 Audrey Putoux, Sophie Thomas, Karlien L. M. Coene, Erica E. Davis, Yasemin Alanay, Gönül Oğur, Elif Uz, Daniela Buzas, Céline Gomes, Sophie Patrier, Christopher Bennett, Nadia Elkhartoufi, Marie-Hélène Saint Frison, Luc Rigonnot, Nicole Joyé, Solenn Pruvost, Gülen Eda Ütine, Koray Boduroğlu, Patrick Nitschké, L. Fertitta, Christel Thauvin‐Robinet, Arnold Münnich, Valérie Cormier‐Daire, Raoul C. M. Hennekam, Estelle Colin, Nurten Akarsu, Christine Bôle‐Feysot, Nicolas Cagnard, Alain Schmitt, Nicolas Goudin, Stanislas Lyonnet, Férechté Encha‐Razavi, Jean‐Pierre Siffroi, Mark Winey, Nicholas Katsanis, Marie Gonzalès, Michel Vekemans, Philip L. Beales, Tania Attié‐Bitach

    出版 2011
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