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Search on : BERTOLA, DEBORA ROMEO [Author]
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 Bertola, Débora Romeo et al. Noonan syndrome: a clinical and genetic study of 31 patients. Rev. Hosp. Clin., Oct 1999, vol.54, no.5, p.147-150. ISSN 0041-8781


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 Pegler, José Roberto Mendes et al. Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia. Rev. Assoc. Med. Bras., June 2016, vol.62, no.3, p.202-206. ISSN 0104-4230


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 Costa, Larissa Sampaio de Athayde et al. Menkes disease: importance of diagnosis with molecular analysis in the neonatal period. Rev. Assoc. Med. Bras., Oct 2015, vol.61, no.5, p.407-410. ISSN 0104-4230


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 Meira, Joanna Goes Castro et al. Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism. Rev. Bras. Ginecol. Obstet., Sept 2018, vol.40, no.9, p.570-575. ISSN 0100-7203


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 Ceroni, Jose Ricardo Magliocco et al. Natural history of 39 patients with Achondroplasia. Clinics, 2018, vol.73. ISSN 1807-5932
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 Quaio, Caio Robledo D'Angioli Costa et al. A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome. Clinics, Aug 2012, vol.67, no.8, p.917-921. ISSN 1807-5932
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 Dutra, Roberta Lelis et al. Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers. Clinics, 2011, vol.66, no.6, p.959-964. ISSN 1807-5932
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 Quaio, Caio Robledo D'Angioli Costa et al. Tegumentary manifestations of Noonan and Noonan-related syndromes. Clinics, 2013, vol.68, no.8, p.1079-1083. ISSN 1807-5932
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 Kuczynski, Evelyn et al. Infantile autism and 47,XYY karyotype. Arq. Neuro-Psiquiatr., Sept 2009, vol.67, no.3a, p.717-718. ISSN 0004-282X
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 Brasil, Amanda Salem et al. Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?. Arq Bras Endocrinol Metab, Nov 2010, vol.54, no.8, p.717-722. ISSN 0004-2730


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