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Refinado por: autor: Guion-Almeida, M remover assunto: Fenótipos remover
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1
Clinical evidence for a mandibular to maxillary transformation in auriculocondylar syndrome
Clinical evidence for a mandibular to maxillary transformation in auriculocondylar syndrome
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Clinical evidence for a mandibular to maxillary transformation in auriculocondylar syndrome

Christopher 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 Amiel

American Journal of Medical Genetics Part A New York v. 164, n. 7, p. 1850-1853, July 2014

Ney York 2014

Acesso online

2
A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects
A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects
Material Type:
Artigo 		Adicionar ao Meu Espaço

A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects

Eleonora 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 Sobacchi

Bone New York v. 153, id. 116152, 7 p., Dec. 2021

New York 2021

Item não circula. Consulte sua biblioteca.(Acessar)

3
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
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Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

Christopher 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 Amiel

American Journal of Human Genetics Chicago v. 93, n. 6, p. 1118-1125, Dec. 2013

Chicago 2013

Item não circula. Consulte sua biblioteca.(Acessar)

4
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome
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Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome

Vanessa L. Romanelli Tavares Roseli M Zechi-Ceide; Debora R Bertola; Christopher T Gordon; Simone G Ferreira; Gabriella S. P Hsia; Guilherme L Yamamoto; Suzana A. M Ezquina; Nancy M Kokitsu-Nakata; Siulan Vendramini-Pittoli; Renato S Freitas; Josiane Souza; Cesar A Raposo-Amaral; Mayana Zatz; Jeanne Amiel; Maria L Guion-Almeida; Maria Rita Passos-Bueno

American Journal of Medical Genetics Part A Hoboken v.173, n.4, p.938-945, 2017

Hoboken 2017

Item não circula. Consulte sua biblioteca.(Acessar)

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