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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Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndromeSandrin-Garcia, P ; Macedo, C ; Martelli, LR ; Ramos, ES ; Guion-Almeida, ML ; Richieri-Costa, A ; Passos, GASClinical genetics, 2002-05, Vol.61 (5), p.380-383 [Periódico revisado por pares]Oxford, UK: Blackwell Science, LtdTexto completo disponível |
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2 |
Material Type: Livro
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Clinical study on 645 patients with cleft palateElaine Sbroggio de Oliveira Rodini Maria Leine Guion-AlmeidaBartsocas, Christos Spyros; Beighton, Peter Dysmorphology and genetics of cardiovascular disorders Athenas : HTA, 1994Athenas HTA 1994Item não circula. Consulte sua biblioteca.(Acessar) |
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3 |
Material Type: Artigo
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P269 Immunological phenotype of a patient with mandibulofacial dysostosis Guion-Almeida type with novel ETFUD2 splicing variantCaraballo, J. ; Fasano, M. ; Russi, A. SerranoAnnals of allergy, asthma, & immunology, 2017-11, Vol.119 (5), p.S68-S68 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
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4 |
Material Type: Dissertação de Mestrado
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Avaliação genética-clínica e audiológica de indivíduos com anomalias de 1º e 2º arcos branquiais associadas à anomalia radialVendramini, SiulanBiblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Hospital de Reabilitação de Anomalias Craniofaciais 2006-04-18Acesso online. A biblioteca também possui exemplares impressos. |
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5 |
Material Type: Artigo
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Apparent malpuech syndrome report on three Brazilian patients with additional signsMaria Leine Guion-AlmeidaNew York v. 58, n. 1, p. 13-17, July 1995 American Journal of Medical GeneticsNew York 1995Item não circula. Consulte sua biblioteca.(Acessar) |
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6 |
Material Type: Artigo
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Apparent Malpuech syndrome: Report on three Brazilian patients with additional signsGuion-Almeida, M. L.American journal of medical genetics, 1995-07, Vol.58 (1), p.13-17 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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7 |
Material Type: Artigo
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Blepharo-cheilo-dontic (BCD) syndrome: Report on four new patientsGuion-Almeida, M.L. ; Rodini, E.S.O. ; Kokitsu-Nakata, N.M. ; Bologna-Amantini, D.American journal of medical genetics, 1998-03, Vol.76 (2), p.133-136 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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8 |
Material Type: Artigo
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Mandibulofacial dysostosis: Report on two Brazilian families suggesting autosomal recessive inheritanceRichieri-Costa, A. ; Bortolozo, M. A. ; Lauris, J. R. P. ; Lauris, R. C. M. C. ; Guion-Almeida, M. L. ; Marques, D. ; Moreti, D.American journal of medical genetics, 1993-07, Vol.46 (6), p.659-664 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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9 |
Material Type: Artigo
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Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with AlopeciaGordon, Christopher T. ; Weaver, K. Nicole ; Zechi-Ceide, Roseli Maria ; Madsen, Erik C. ; Tavares, Andre L.P. ; Oufadem, Myriam ; Kurihara, Yukiko ; Adameyko, Igor ; Picard, Arnaud ; Breton, Sylvain ; Pierrot, Sébastien ; Biosse-Duplan, Martin ; Voisin, Norine ; Masson, Cécile ; Bole-Feysot, Christine ; Nitschké, Patrick ; Delrue, Marie-Ange ; Lacombe, Didier ; Guion-Almeida, Maria Leine ; Moura, Priscila Padilha ; Garib, Daniela Gamba ; Munnich, Arnold ; Ernfors, Patrik ; Hufnagel, Robert B. ; Hopkin, Robert J. ; Kurihara, Hiroki ; Saal, Howard M. ; Weaver, David D. ; Katsanis, Nicholas ; Lyonnet, Stanislas ; Golzio, Christelle ; Clouthier, David E. ; Amiel, JeanneAmerican journal of human genetics, 2015-04, Vol.96 (4), p.519-531 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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10 |
Material Type: Artigo
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Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: Report of a Brazilian familyRichieri-Costa, Antonio ; Guion-Almeida, Maria Leine ; Freire-Maia, Newton ; Pinheiro, MartaAmerican journal of medical genetics, 1992-09, Vol.44 (2), p.158-162 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |