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Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature

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Year: 2013
Type: article
Study design: Observational Study
Source: European Journal of Pediatrics
DOI: 10.1007/s00431-013-1964-0
Authors: Fabíola P. Monteiro, Társis P. Vieira, Ilária C. Sgardioli, Miriam C. Molck, Ana Paula Damiano, Josiane Souza, Isabella L. Monlleó, Marshall I. B. Fontes, Agnes C. Fett-Conte, Têmis M. Félix, Gabriela F. Leal, Erlane M.Ribeiro, Claudio E. M. Banzato, Clarissa de R. Dantas, Iscia Lopes-Cendes, Vera Lúcia Gil-da-Silva-Lopes
Institutions: Universidade Estadual de Campinas (UNICAMP), Pontifícia Universidade Católica do Paraná, Universidade Estadual de Ciências da Saúde de Alagoas, Universidade Estadual de Alagoas, Universidade Federal de Alagoas, Faculdade de Medicina de São José do Rio Preto, Hospital de Clínicas de Porto Alegre, Instituto de Medicina Integral Professor Fernando Figueira, Hospital Infantil Albert Sabin
Language: English

Topic: Genomic variations and chromosomal abnormalities
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed
OpenAlex ID: W2153097948
FWCI: 4.322
Cites: 82
Cited by: 71
Related to: 10
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