Výsledky vyhledávání - Nancy Mizue Kokitsu‐Nakata

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  1. 1
    Estudo genético-clínico de 144 pacientes portadores de deficiência auditiva não sindrômica".

    Estudo genético-clínico de 144 pacientes portadores de deficiência auditiva não sindrômica". Autor Nancy Mizue Kokitsu‐Nakata

    Vydáno 2000
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    Tese/Dissertação
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  2. 2
    Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and cleft lip and palate. Report of two Brazilian families

    Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and cleft lip and palate. Report of two Brazilian families Autor Nancy Mizue Kokitsu‐Nakata, A. Richieri‐Costa

    Vydáno 1998
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  3. 3
    Delleman syndrome in a Brazilian boy

    Delleman syndrome in a Brazilian boy Autor M. L. Guion‐Almeida, Nancy Mizue Kokitsu‐Nakata

    Vydáno 1996
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  4. 4
    Say syndrome: A new Brazilian case

    Say syndrome: A new Brazilian case Autor M. L. Guion‐Almeida, Nancy Mizue Kokitsu‐Nakata, Roseli Maria Zechi‐Ceide

    Vydáno 1998
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  5. 5
    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 Autor Siulan Vendramini‐Pittoli, Nancy Mizue Kokitsu‐Nakata, Roseli Maria Zechi‐Ceide, Camila Wenceslau Alvarez, Lucilene Arilho Ribeiro, Antônio Richieri‐Costa

    Vydáno 2016
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  6. 6
    Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7

    Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7 Autor Roseli Maria Zechi‐Ceide, Melina Guerreiro Rodrigues, Fernanda Sarquis Jehee, Nancy Mizue Kokitsu‐Nakata, Maria Rita Passos‐Bueno, Maria Leine Guion‐Almeida

    Vydáno 2012
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  7. 7
    Auriculo‐condylar syndrome. Confronting a diagnostic challenge

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

    Vydáno 2011
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  8. 8
    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 Autor 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

    Vydáno 2012
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  9. 9
    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 Autor 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

    Vydáno 2016
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  10. 10
    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 Autor 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

    Vydáno 2020
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  11. 11
    Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome

    Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome Autor Christopher T. Gordon, Christopher Cunniff, Glenn E. Green, Roseli Maria Zechi‐Ceide, Jason M. Johnson, Alex Henderson, Florence Petit, Nancy Mizue Kokitsu‐Nakata, Maria Leine Guion‐Almeida, Arnold Münnich, Michael L. Cunningham, Stanislas Lyonnet, Jeanne Amiel

    Vydáno 2014
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  12. 12
    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 Autor 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

    Vydáno 2013
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  13. 13
    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 Autor 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

    Vydáno 2014
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  14. 14
    Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

    Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases Autor Nancy Végas, Zeynep Demir, Christopher T. Gordon, Sylvain Breton, Vanessa Luiza Romanelli Tavares, Hugo Moisset, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Yasuhiro Kido, Sandrine Marlin, Souad Gherbi Halem, Ilse Meerschaut, Bert Callewaert, Brian Hon‐Yin Chung, Nicole Revençu, Daphné Lehalle, Florence Petit, Evan J. Propst, Blake C. Papsin, John H. Phillips, Linda P. Jakobsen, Pauline Le Tanno, Julien Thévenon, Julie McGaughran, Erica H. Gerkes, Chiara Leoni, Peter M. Kroisel, Tiong Yang Tan, Alex Henderson, Paulien A. Terhal, Lina Basel‐Vanagaite, A. Alkindy, Susan M. White, Maria Rita Passos‐Bueno, Véronique Pingault, Loïc de Pontual, Jeanne Amiel

    Vydáno 2022
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  15. 15
    Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries

    Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries Autor Patricia C. Mazzonetto, Darine Villela, Ana Cristina Victorino Krepischi, Paulo Marques Pierry, Adriano Bonaldi, Luiz Gustavo Dufner‐Almeida, Marcelo G. Paula, Matheus Carvalho Bürger, Ana Gabriela Caldas Oliveira, Gustavo G. G. Fonseca, Roberto Giugliani, Mariluce Riegel, Débora Romeo Bertola, Guilherme Lopes Yamamoto, Maria Rita Passos‐Bueno, Gabriele da Silva Campos, Ana Claudia Dantas Machado, Juliana F. Mazzeu, Eduardo Perrone, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Társis Paiva Vieira, Carlos Eduardo Steiner, Vera Lúcia Gil‐da‐Silva‐Lopes, Daniela Koeller Rodrigues Vieira, Raquel Boy, João Monteiro de Pina Neto, Cristovam Scapulatempo‐Neto, Fernanda Milanezi, Carla Rosenberg

    Vydáno 2023
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  16. 16
    Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries

    Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries Autor Patricia C. Mazzonetto, Darine Villela, Ana Cristina Victorino Krepischi, Paulo Marques Pierry, Adriano Bonaldi, Luiz Gustavo Dufner‐Almeida, Marcelo G. Paula, Matheus Carvalho Bürger, Ana Gabriela de Oliveira, Gustavo G. G. Fonseca, Roberto Giugliani, Mariluce Riegel, Débora Romeo Bertola, Guilherme Lopes Yamamoto, Maria Rita Passos‐Bueno, Gabriele da Silva Campos, Ana Claudia Dantas Machado, Juliana F. Mazzeu, Eduardo Perrone, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Társis Paiva Vieira, Carlos Eduardo Steiner, Vera Lúcia Gil‐da‐Silva‐Lopes, Daniela Koeller Rodrigues Vieira, Raquel Boy, João Monteiro de Pina Neto, Cristovam Scapulatempo‐Neto, Fernanda Milanezi, Carla Rosenberg

    Vydáno 2024
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  17. 17
    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 Autor 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

    Vydáno 2018
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  18. 18
    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 Autor 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

    Vydáno 2020
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