Audiological Findings in Patients with Oculo-Auriculo-Vertebral Spectrum

por Sleifer, Pricila, Gorsky, Natalya de Souza, Goetze, Thayse Bienert, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola
Publicado 2014

Anterior laryngeal membrane and 22q11 deletion syndrome

por Rosa, Rafael Fabiano Machado, Rosa, Rosana Cardoso Manique, Krumenauer, Rita Carolina Pozzer, Varella-Garcia, Marileila, Paskulin, Giorgio Adriano
Publicado 2015

Hematological abnormalities and 22q11.2 deletion syndrome

por Rosa, Rafael Fabiano Machado, Rosa, Rosana Cardoso Manique, dos Santos, Pedro Paulo Albino, Zen, Paulo Ricardo Gazzola, Paskulin, Giorgio Adriano
Publicado 2011

Pre- and postnatal findings of a dicephalus tetrabrachius-dipus conjoined twins with a diaphragmatic hernia

por Rosa, Rafael Fabiano Machado, Targa, Luciano Vieira, Altmayer, Stephan Philip Leonhardt, Lliguin, Karen Lizeth Puma, Denardin, Daniela, da Cunha, André Campos
Publicado 2015

PDGFRA, KIT, and KDR Gene Amplification in Glioblastoma: Heterogeneity and Clinical Significance

por Carlotto, Bianca Soares, Trevisan, Patricia, Provenzi, Valentina Oliveira, Soares, Fabiano Pasqualotto, Rosa, Rafael Fabiano Machado, Varella-Garcia, Marileila, Zen, Paulo Ricardo Gazzola
Publicado 2023

Cytogenetic profile of patients with Down syndrome in southern Brazil

por Trevisan, Patrícia, de Moraes, Felipe Nora, de Mattos, Vinicius Freitas, Graziadio, Carla, Rosa, Rafael Fabiano Machado, Paskulin, Giorgio Adriano, Zen, Paulo Ricardo Gazzola
Publicado 2014

Chromosomal Abnormalities in Patients with Congenital Heart Disease

por Trevisan, Patrícia, Zen, Tatiana Diehl, Rosa, Rafael Fabiano Machado, da Silva, Juliane Nascimento, Koshiyama, Dayane Bohn, Paskulin, Giorgio Adriano, Zen, Paulo Ricardo Gazzola
Publicado 2013

Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study

por Nunes, Maurício Rouvel, Pereira, Tiago Godói, Correia, Henry Victor Dutra, Canabarro, Simone Travi, Vanz, Ana Paula, Zen, Paulo Ricardo Gazzola, Rosa, Rafael Fabiano Machado
Publicado 2021

Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study

por Besson, Marina da Rocha, Taiarol, Mateus dos Santos, Fernandes, Eliaquim Beck, Ghiorzi, Isadora Bueloni, Nunes, Maurício Rouvel, Zen, Paulo Ricardo Gazzola, Rosa, Rafael Fabiano Machado
Publicado 2023

Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

por Rosa, Rafael Fabiano Machado, da Silva, Alessandra Pawelec, Goetze, Thayse Bienert, de Almeida Bier, Bianca, de Almeida, Sheila Tamanini, Paskulin, Giorgio Adriano, Zen, Paulo Ricardo Gazzola
Publicado 2015

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

por Rosa, Rafael Fabiano Machado, D'Ecclesiis, Willy Francisco Bartel, Dibbi, Raquel Papandreus, Rosa, Rosana Cardoso Manique, Trevisan, Patrícia, Graziadio, Carla, Paskulin, Giorgio Adriano, Zen, Paulo Ricardo Gazzola
Publicado 2014

Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil: Características de fetos avaliados por suspeita de anencefali...

por Pelizzari, Emanuele, Valdez, Carolina Melendez, Picetti, Jamile dos Santos, da Cunha, André Campos, Dietrich, Cristine, Fell, Paulo Renato Krahl, Targa, Luciano Vieira, Zen, Paulo Ricardo Gazzola, Rosa, Rafael Fabiano Machado
Publicado 2015

Comorbidity between Klinefelter syndrome and diaphragmatic hernia. A case report

por Valdez, Carolina Melendez, Altmayer, Stephan Philip Leonhardt, Faria, Adyr Eduardo Virmond, Weiss, Aline, Telles, Jorge Alberto Bianchi, Fell, Paulo Renato Krall, Targa, Luciano Vieira, Zen, Paulo Ricardo Gazzola, Rosa, Rafael Fabiano Machado
Publicado 2014

Tumor size and prognosis in patients with Wilms tumor

por Provenzi, Valentina Oliveira, Rosa, Rafael Fabiano Machado, Rosa, Rosana Cardoso Manique, Roehe, Adriana Vial, dos Santos, Pedro Paulo Albino, Faulhaber, Fabrízia Rennó Sodero, de Oliveira, Ceres Andréia Vieira, Zen, Paulo Ricardo Gazzola
Publicado 2015

SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?

por Rosa, Rafael Fabiano Machado, de Moraes, Samir Abou Ghaouche, Sulczinski, Leonardo Paludo, da Silva, Filipe Augusto, Milner, Olga Gaio, Pires, Silvana Rodrigues Streit, Artigalas, Osvaldo Alfonso Pinto, Rosa, Rosana Cardoso Manique, Zen, Paulo Ricardo Gazzola
Publicado 2017