檢索結果 - Siulan Vendramini‐Pittoli

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  1. 1
    Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings

    Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings 由 Siulan Vendramini‐Pittoli, Nancy Mizue Kokitsu‐Nakata, Roseli Maria Zechi‐Ceide, Camila Wenceslau Alvarez, Lucilene Arilho Ribeiro, Antônio Richieri‐Costa

    出版 2016
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  2. 2
    Auriculo‐condylar syndrome. Confronting a diagnostic challenge

    Auriculo‐condylar syndrome. Confronting a diagnostic challenge 由 Nancy Mizue Kokitsu‐Nakata, Roseli Maria Zechi‐Ceide, Siulan Vendramini‐Pittoli, Vanessa Luiza Romanelli Tavares, Maria Rita Passos‐Bueno, Maria Leine Guion‐Almeida

    出版 2011
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  3. 3
    Analysis of <i>MLL2</i> gene in the first Brazilian family with Kabuki syndrome

    Analysis of <i>MLL2</i> gene in the first Brazilian family with Kabuki syndrome 由 Nancy Mizue Kokitsu‐Nakata, Aline Petrin, Jason Heard, Siulan Vendramini‐Pittoli, Laura E Henkle, Daniela Vera Cruz dos Santos, Jeffrey C. Murray, Antônio Richieri‐Costa

    出版 2012
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  4. 4
    Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability

    Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability 由 Bruno Faulin Gamba, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Siulan Vendramini‐Pittoli, Carla Rosenberg, Ana C.V. Krepischi Santos, Lucilene Arilho Ribeiro, Antônio Richieri‐Costa

    出版 2016
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  5. 5
    Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

    Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2 由 Siulan Vendramini‐Pittoli, Rosana Maria Candido‐Souza, Rodrigo Gonçalves Quiezi, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Fernanda Sarquis Jehee, Lucilene Arilho Ribeiro, David Fitzpatrick, Maria Leine Guion‐Almeida, Antônio Richieri‐Costa

    出版 2020
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  6. 6
    Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

    Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears 由 Christopher T. Gordon, Florence Petit, Peter M. Kroisel, Linda P. Jakobsen, Roseli Maria Zechi‐Ceide, Myriam Oufadem, Christine Bôle‐Feysot, Solenn Pruvost, Cécile Masson, Frédéric Torès, Thierry Hieu, Patrick Nitschké, Pernille Lindholm, P. Pellerin, Maria Leine Guion‐Almeida, Nancy Mizue Kokitsu‐Nakata, Siulan Vendramini‐Pittoli, Arnold Münnich, Stanislas Lyonnet, Muriel Holder‐Espinasse, Jeanne Amiel

    出版 2013
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  7. 7
    Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

    Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect 由 Vanessa Luiza Romanelli Tavares, Christopher T. Gordon, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Norine Voisin, Tiong Yang Tan, Andrew A. Heggie, Siulan Vendramini‐Pittoli, Evan J. Propst, Blake C. Papsin, Tatiana Teixeira Torres, Henk P.J. Buermans, Luciane P. Capelo, Johan T. den Dunnen, Maria Leine Guion‐Almeida, Stanislas Lyonnet, Jeanne Amiel, Maria Rita Passos‐Bueno

    出版 2014
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  8. 8
    Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

    Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome 由 Anneke J.A. Kievit, Federico Tessadori, Hannie Douben, Ingrid Jordens, Madelon M. Maurice, Jeannette Hoogeboom, Raoul C. M. Hennekam, Sheela Nampoothiri, Hülya Kayserili, Marco Castori, Margo Whiteford, Connie S. Motter, Catherine Melver, Michael L. Cunningham, Anne Hing, Nancy Mizue Kokitsu‐Nakata, Siulan Vendramini‐Pittoli, Antônio Richieri‐Costa, Annette F. Baas, Corstiaan C. Breugem, Karen Duran, Maarten P.G. Massink, Patrick W.B. Derksen, Wilfred F. J. van IJcken, Leontine van Unen, Fernando Santos‐Simarro, Pablo Lapunzina, Vera Lúcia Gil‐da‐Silva‐Lopes, Elaine Lustosa‐Mendes, Max Krall, Anne Slavotinek, Víctor Martínez‐Glez, Jeroen Bakkers, Koen L.I. van Gassen, Annelies de Klein, Marie‐José H. van den Boogaard, Gijs van Haaften

    出版 2018
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  9. 9
    Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose

    Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose 由 Angela Delaney, Rita Volochayev, Brooke Meader, Janice Lee, Konstantinia Almpani, Germaine Y Noukelak, Jennifer Henkind, Laura Chalmers, Jennifer Law, Kathleen A. Williamson, Christina M. Jacobsen, Tatiana Pineda Buitrago, O. Moreno Perez, Chie Hee Cho, Angela M. Kaindl, Anita Rauch, Katharina Steindl, José Elías García, Bianca Russell, Rameshwar Prasad, Uttam Mondal, Hallvard Reigstad, Scott Clements, Hanna Kim, Kaoru Inoue, Gazal Arora, Kathryn Salnikov, Nicole P DiOrio, Rolando Prada, Yline Capri, Kosuke Morioka, Michiyo Mizota, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Cristiano Tonello, Siulan Vendramini‐Pittoli, Gisele da Silva Dalben, Ravikumar Balasubramanian, Andrew Dwyer, Stephanie B. Seminara, William F. Crowley, Lacey Plummer, Janet E. Hall, John M. Graham, Angela E. Lin, Natalie D. Shaw

    出版 2020
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