Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Clinical evidence for a mandibular to maxillary transformation in auriculocondylar syndromeChristopher T. Gordon Christopher M Cunniff; Glenn E Green; Roseli Maria Zechi-Ceide; Jason M Johnson; Alex Henderson; Florence Petit; Nancy Mizue Kokitsu Nakata; Maria Leine Guion-Almeida; Arnold Munnich; Michael L Cunningham; Stanislas Lyonnet; Jeanne AmielAmerican Journal of Medical Genetics Part A New York v. 164, n. 7, p. 1850-1853, July 2014Ney York 2014Acesso online |
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2 |
Material Type: Artigo de Congresso
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Espectro oculoauriculovertebral com fissura tessier 30. Relato de dois casosNancy Mizue Kokitsu Nakata Maria Leine Guion-Almeida; Juliana Mercado Santos; Silvio Meira Garcia Junior; Maurício Mitsuru Yoshida; Antonio Richieri-Costa; Siulan Vendramini Pailovich Pittoli; Congresso Brasileiro de Genética Médica (26. 2014 Fortaleza)Anais Fortaleza : Sociedade Brasileira de Genética Médica, 2014Fortaleza Sociedade Brasileira de Genética Médica SBGM 2014Item não circula. Consulte sua biblioteca.(Acessar) |
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3 |
Material Type: Artigo de Congresso
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Oculoauriculovertebral spectrum with radial anomalies a clinical study in 29 brazilian casesNancy Mizue Kokitsu Nakata Siulan Vendramini Paulovich Pittoli; Márcia Ribeiro Gomide; Sílvio Garcia Meira Júnior; Antonio Richieri-Costa; Maria Leine Guion-Almeida; International Congress on Cleft Lip and Palate and Related Craniofacial Anomalies: Cleft and craniofacial care experience, evolution and innovation (11 2009 Fortaleza)Anais Fortaleza: SOBRAPAR, 2009Fortaleza SOBRAPAR 2009Item não circula. Consulte sua biblioteca.(Acessar) |
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4 |
Material Type: Artigo
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A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defectsEleonora Palagano Christopher T Gordon; Paolo Uva; Dario Strina; Clémantine Dimartino; Anna Villa; Jeanne Amiel; Maria Leine Guion-Almeida; Siulan Vendramini Paulovich Pittoli; Nancy Mizue Kokitsu Nakata; Roseli Maria Zechi-Ceide; Cristina SobacchiBone New York v. 153, id. 116152, 7 p., Dec. 2021New York 2021Item não circula. Consulte sua biblioteca.(Acessar) |
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5 |
Material Type: Artigo
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Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark earsChristopher J Gordon Florence Petit; Peter Michael Kroisel; Linda Jakobsen; Roseli Maria Zechi-Ceide; Myriam Oufadem; C Bole-Feysot; Solenn Pruvost; Cécile Masson; Frédéric Tores; Thierry Hieu; Patrick Nitschké; Pernille Lindholm; Philippe Pellerin; Maria Leine Guion-Almeida; Nancy Mizue Kokitsu Nakata; Siulan Vendramini Paulovich Pittoli; Arnold Munnich; Stanislas Lyonnet; Muriel Holder-Espinasse; Jeanne AmielAmerican Journal of Human Genetics Chicago v. 93, n. 6, p. 1118-1125, Dec. 2013Chicago 2013Item não circula. Consulte sua biblioteca.(Acessar) |
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6 |
Material Type: Artigo
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Further delineation of Kabuki Syndrome in 48 well-defined new individualsLinlea Armstrong Azza Abd El Moneim; Kirk Aleck; David J Aughton; Clarisse Baumann; Stephen R Braddock; Gabriele Gillessen-Kaesbach; John M Graham Junior; Theresa A Grebe; Karen W Gripp; Bryan D Hall; Raoul Hennekam; Alasdair Hunter; Kim Keppler-Noreuil; Didier Lacombe; Angela E Lin; Jeffrey E Ming; Nancy Mizue Kokitsu Nakata; Sarah M Nikkel; Nicole Philip; Annick Raas-Rothschild; Annemarie Sommer; Alain Verloes; Claudia Walter; Dagmar Wieczorek; Marc S Williams; Elaine Zackai; Judith E AllansonAmerican Journal of Medical Genetics. Part A Hoboken v. 132A, n. 3, p. 265-272, Jan. 2005Hoboken 2005Item não circula. Consulte sua biblioteca.(Acessar) |
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7 |
Material Type: Artigo
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Insight into the ontogeny of GnRH neurons from patients born without a noseAngela Delaney Rita Volochayev; Brooke Meader; Janice Lee; Konstantinia Almpani; Germaine Y Noukelak; Jennifer Henkind; Laura Chalmers; Jennifer R Law; Kathleen A Williamson; Christina M Jacobsen; Tatiana Pineda Buitrago; Orlando Perez; Chie-Hee Cho; Angela Kaindl; Anita Rauch; Katharina Steindl; Jose Elias Garcia; Bianca E Russell; Rameshwar Prasad; Uttam K Mondal; Hallvard M Reigstad; Scott Clements; Susan Kim; Kaoru Inoue; Gazal Arora; Kathryn B Salnikov; Nicole P DiOrio; Rolando Prada; Yline Capri; Kosuke Morioka; Michiyo Mizota; Roseli Maria Zechi-Ceide; Nancy Mizue Kokitsu Nakata; Cristiano Tonello; Siulan Vendramini Paulovich Pittoli; Gisele da Silva Dalben; Ravikumar Balasubramanian; Andrew A Dwyer; Stephanie B Seminara; William F Crowley Júnior; Lacey Plummer; Janet E Hall; John M Graham Júnior; Angela E Lin; Natalie D ShawJournal of Clinical Endocrinology and Metabolism Washington v. 105, n. 5, p. 1538-1551, 2020Washington 2020Item não circula. Consulte sua biblioteca.(Acessar) |