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Education and qualifications (3)

Universidade Federal de Ciências da Saúde de Porto Alegre: Porto Alegre, Rio Grande do Sul, BR

2020-04 to 2024-09-06 | PhD
Education
Source: Self-asserted source
Desirée Deconte

Universidade Federal de Ciências da Saúde de Porto Alegre: Porto Alegre, RS, BR

2017-03-01 to 2019-05-31 | Master
Education
Source: Self-asserted source
Desirée Deconte

Universidade Federal de Ciências da Saúde de Porto Alegre: Porto Alegre, RS, BR

2012-02-26 to 2016-12-17 | Bachelor in Biomedicine
Education
Source: Self-asserted source
Desirée Deconte

Works (10)

Discrepancies between red cell phenotyping and genotyping for characterization of the Duffy blood system in blood donors in southern Brazil

Revista de Ciências Médicas e Biológicas
2024-10-17 | Journal article
Contributors: Scheila da Silva Soares; Desireé Deconte; Tiago Bittencourt De Oliveira; Silvana Almeida; Marilu Fiegenbaum
Source: check_circle
Crossref

Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome

International Journal of Molecular Sciences
2024-07-19 | Journal article
Part of ISSN: 1422-0067
Contributors: Desirée Deconte; Bruna Diniz; Jéssica K. Hartmann; Mateus A. de Souza; Laira F. F. Zottis; Paulo Zen; Rafael F. M. Rosa; Marilu Fiegenbaum
Source: Self-asserted source
Desirée Deconte

Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review

Revista Paulista de Pediatria
2023 | Journal article
Contributors: Bianca Soares Carlotto; Desirée Deconte; Bruna Lixinski Diniz; Priscila Ramires da Silva; Paulo Ricardo Gazzola Zen; André Anjos da Silva
Source: check_circle
Crossref

Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis

Journal of Pediatric Genetics
2023-06 | Journal article
Contributors: Bruna Lixinski Diniz; Desirée Deconte; Kerolainy Alves Gadelha; Andressa Barreto Glaeser; Bruna Baierle Guaraná; Andreza Ávila de Moura; Rafael Fabiano Machado Rosa; Paulo Ricardo Gazzola Zen
Source: check_circle
Crossref

Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case

Journal of Pediatric Genetics
2021-03 | Journal article
Part of ISSN: 2146-4596
Part of ISSN: 2146-460X
Contributors: Bruna Lixinski Diniz; Andressa Barreto Glaeser; Desirée Deconte; Bruna Baierle Guaraná; Rafael Fabiano Machado Rosa; Paulo Zen
Source: Self-asserted source
Desirée Deconte

Unusual features in a child with Marshall-Smith syndrome due to a novel NFIX variant: Evidence for an abnormal protein function

Gene Reports
2021-03 | Journal article
Part of ISSN: 2452-0144
Source: Self-asserted source
Desirée Deconte

Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2

Journal of Pediatric Genetics
2020-12-06 | Journal article
Contributors: Desirée Deconte; Tulia Cristina Kreusch; Bruna Pavan Salvaro; Wagner Fernando Perin; Maria Angélica Tosi Ferreira; Cristiane Kopacek; Ernani Bohrer da Rosa; Jane Iândora Heringer; Rodrigo Ligabue-Braun; Paulo Ricardo Gazzola Zen et al.
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Crossref

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

American Journal of Medical Genetics Part A
2020-11 | Journal article
Contributors: Andressa Barreto Glaeser; Andressa Schneiders Santos; Bruna Lixinski Diniz; Desireé Deconte; Rafael Fabiano Machado Rosa; Paulo Ricardo Gazzola Zen
Source: check_circle
Crossref

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

Journal of Pediatric Genetics
2020-05-27 | Journal article
Part of ISSN: 2146-4596
Part of ISSN: 2146-460X
Source: Self-asserted source
Desirée Deconte

Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism

Journal of Pediatric Genetics
2020-02-28 | Journal article
Part of ISSN: 2146-4596
Part of ISSN: 2146-460X
Source: Self-asserted source
Desirée Deconte