Lista de obras -

22q11.2 deletion syndrome and complex congenital heart defects ⬇️

artículo científico publicado el 1 de enero de 2011

Auditory evoked potentials in children and adolescents with Down syndrome

artículo científico publicado en 2017

Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review

artículo científico publicado en 2020

Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil

artículo científico publicado en 2020

Cytogenetic response to imatinib treatment in Southern Brazilian patients with chronic myelogenous leukemia and variant Philadelphia chromosome ⬇️

artículo científico publicado el 14 de octubre de 2012

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

artículo científico publicado el 1 de julio de 2011

Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: novel evidence for a new condition?

artículo científico publicado en 2014

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

artículo científico publicado el 1 de enero de 2010

Frequency and clinical significance of chromosome 7 and 10 aneuploidies, amplification of the EGFR gene, deletion of PTEN and TP53 genes, and 1p/19q deficiency in a sample of adult patients diagnosed with glioblastoma from Southern Brazil.

artículo científico

Hematological abnormalities and 22q11.2 deletion syndrome ⬇️

artículo científico publicado el 1 de enero de 2011

Limb abnormalities on trisomy 18: evidence for early diagnosis ⬇️

artículo científico publicado el 22 de septiembre de 2012

Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review

artículo científico publicado en 2020

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

artículo científico publicado el 1 de diciembre de 2011

Periconceptional folic acid supplementation in Southern Brazil: Why are not we doing it right?

scientific article published on 19 December 2018

Peripheral and Central Auditory Findings in Individuals with Williams Syndrome

artículo científico publicado en 2019

Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings.

artículo científico publicado en 2017

Trisomy 12p syndrome secondary to a balanced familial translocation.

artículo científico publicado en 2010

Trisomy 18 (Edwards syndrome) and major gastrointestinal malformations ⬇️

artículo científico publicado el 1 de enero de 2013

Trisomy 18 and Neural Tube Defects ⬇️

artículo científico publicado el 4 de julio de 2013

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

artículo científico publicado el 1 de enero de 2012

[Report of a Brazilian patient with Wolfram Syndrome]

artículo científico publicado en 2002

Lista de obras de

22q11.2 deletion syndrome and complex congenital heart defects ⬇️

Auditory evoked potentials in children and adolescents with Down syndrome

Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review

Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil

Cytogenetic response to imatinib treatment in Southern Brazilian patients with chronic myelogenous leukemia and variant Philadelphia chromosome ⬇️

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

Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: novel evidence for a new condition?

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

Frequency and clinical significance of chromosome 7 and 10 aneuploidies, amplification of the EGFR gene, deletion of PTEN and TP53 genes, and 1p/19q deficiency in a sample of adult patients diagnosed with glioblastoma from Southern Brazil.

Hematological abnormalities and 22q11.2 deletion syndrome ⬇️

Limb abnormalities on trisomy 18: evidence for early diagnosis ⬇️

Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review

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

Periconceptional folic acid supplementation in Southern Brazil: Why are not we doing it right?

Peripheral and Central Auditory Findings in Individuals with Williams Syndrome

Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings.

Trisomy 12p syndrome secondary to a balanced familial translocation.

Trisomy 18 (Edwards syndrome) and major gastrointestinal malformations ⬇️

Trisomy 18 and Neural Tube Defects ⬇️

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

[Report of a Brazilian patient with Wolfram Syndrome]