Peripheral and Central Auditory Findings in Individuals with Williams Syndrome

by Rayane Fraga, Pricila Sleifer, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen
Published 2019-07-01

Síndrome brânquio-óculo-facial (BOFS) e cardiopatias congênitas Síndrome branquio óculo facial (BOFS) y cardiopatías congénitas Branchio-oculo-facial syndrome (BOFS) and congenital...

by Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Carla Graziadio, Giorgio Adriano Paskulin
Published 2009-02-01

Características clínicas de uma amostra de pacientes com a síndrome do olho do gato Clinical characteristics of a sample of patients with cat eye syndrome

by Rafael Fabiano Machado Rosa, Rômulo Mombach, Paulo Ricardo Gazzola Zen, Carla Graziadio, Giorgio Adriano Paskulin
Published 2010-01-01

Type 1 diabetes in a patient with Ellis-van Creveld syndrome

by Carla Graziadio, Pricila Bernardi, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin

Homicide, fragile X syndrome, and mental retardation

by Lisieux Elaine de Borba Telles, Pedro Henrique Iserhard Zoratto, Vivian Peres Day, Rafael Fabiano Machado Rosa
Published 2013-12-01

Audiological Findings in Patients with Oculo-Auriculo-Vertebral Spectrum

by Pricila Sleifer, Natalya de Souza Gorsky, Thayse Bienert Goetze, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen
Published 2015-01-01

New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival

by Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa, Rosana Cardoso Manique Rosa, Carla Graziadio, Giorgio Adriano Paskulin

Anterior laryngeal membrane and 22q11 deletion syndrome Membrana laríngea anterior e Síndrome de deleção 22q11

by Rafael Fabiano Machado Rosa, Rosana Cardoso Manique Rosa, Rita Carolina Pozzer Krumenauer, Marileila Varella-Garcia, Giorgio Adriano Paskulin
Published 2011-08-01

Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association

by Pricila Bernardi, Carla Graziadio, Rafael Fabiano Machado Rosa, Juliana Nunes Pfeil, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin

Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome) Anormalidades do sistema nervoso central em pacientes com espectro ócul...

by Rafael Fabiano Machado Rosa, Carla Graziadio, Rene Lenhardt, Ronnie Peterson Marcondes Alves, Giorgio Adriano Paskulin, Paulo Ricardo Gazzola Zen
Published 2010-02-01

Hematological abnormalities and 22q11.2 deletion syndrome

by Rafael Fabiano Machado Rosa, Rosana Cardoso Manique Rosa, Pedro Paulo Albino dos Santos, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin
Published 2011-01-01

Espectro óculo-aurículo-vertebral e malformações cardíacas Oculo-auriculo-vertebral spectrum and cardiac malformations

by Rafael Fabiano Machado Rosa, Lisiane Dall'Agnol, Paulo Ricardo Gazzola Zen, Vera Lúcia Berenstein Pereira, Carla Graziadio, Giorgio Adriano Paskulin
Published 2010-01-01

Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion Distonia, doença autoimune e anormalidades da substância branca cerebral em paci...

by Carla Graziadio, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Louise Lapagesse de Camargo Pinto, Liselotte Menke Barea, Giorgio Adriano Paskulin
Published 2009-09-01

Anormalidades cromossômicas em casais com história de aborto recorrente Chromosomal abnormalities in couples with history of recurrent abortion

by Andrea Kiss, Rafael Fabiano Machado Rosa, Raquel Papandreus Dibi, Paulo Ricardo Gazzola Zen, Juliana Nunes Pfeil, Carla Graziadio, Giorgio Adriano Paskulin
Published 2009-02-01

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

by Rafael Fabiano Machado Rosa, Luciano Vieira Targa, Stephan Philip Leonhardt Altmayer, Karen Lizeth Puma Lliguin, Daniela Denardin, André Campos da Cunha
Published 2015-02-01

Screening for 22q11 deletion syndrome among patients with congenital heart defects

by Rafael Fabiano Machado Rosa, Rosana Cardoso Manique Rosa, Patrícia Trevisan, Carla Graziadio, Marileila Varella-Garcia, Giorgio Adriano Paskulin, Paulo Ricardo Gazzola Zen

Síndrome de deleção 22q11 e cardiopatias congênitas complexas 22q11.2 deletion syndrome and complex congenital heart defects

by Rafael Fabiano Machado Rosa, Patrícia Trevisan, Dayane Bohn Koshiyama, Carlo Benatti Pilla, Paulo Ricardo Gazzola Zen, Marileila Varella-Garcia, Giorgio Adriano Paskulin
Published 2011-02-01

Anormalidades cromossômicas entre pacientes com cardiopatia congênita

by Patrícia Trevisan, Tatiana Diehl Zen, Rafael Fabiano Machado Rosa, Juliane Nascimento da Silva, Dayane Bohn Koshiyama, Giorgio Adriano Paskulin, Paulo Ricardo Gazzola Zen
Published 2013-12-01

Cytogenetic profile of patients with Down syndrome in southern Brazil

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

Amenorréia primária e cariótipo XY: identificando pacientes em risco Primary amenorrhea and XY karyotype: identifying patients in risk

by Rafael Fabiano Machado Rosa, Raquel Papandreus Dibi, Nadima Vieira Toscani, Leonardo Leiria Moura da Silva, Paulo Ricardo Gazzola Zen, Carla Graziadio, Giorgio Adriano Paskulin
Published 2008-11-01