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Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing

Autor: Homma, Thais Kataoka ^{1, 2, ∗}, Freire, Bruna Lucheze ^{1, 2, ∗}, Honjo Kawahira, Rachel Sayuri ³, Dauber, Andrew ⁴, Funari, Mariana Ferreira de Assis ², Lerario, Antônio Marcondes ⁵, Nishi, Mirian Yumie ², Albuquerque, Edoarda Vasco de ¹, Vasques, Gabriela de Andrade ¹, Collett-Solberg, Paulo Ferrez ⁶, Miura Sugayama, Sofia Mizuho ³, Bertola, Debora Romeo ³, Kim, Chong Ae ³, Arnhold, Ivo Jorge Prado ², Malaquias, Alexsandra Christianne ^{1, 7}, Jorge, Alexander Augusto de Lima ^{1, 2, ∗}

Publikováno v: In The Journal of Pediatrics December 2019 215:192-198

AVALIAÇÃO QUALITATIVA DA ROTAÇÃO MEDIAL DA TÍBIA PROXIMAL APÓS LUXAÇÃO COXOFEMORAL. UMA TENTATIVA DE PROVAR A INFLUÊNCIA DO POSICIONAMENTO DA ARTICULAÇÃO COXOFEMORAL NA ETIOPATOGENIA DE LUXAÇÕES MEDIAIS DE PATELA EM CÃES

Autor: Diego Manoel Da Silva, Aparecida Lavelli, Danielli, Castro Barros, Fabio Rodrigo, Garcia de Oliveira , Marjory, Camargo Gallo, Guilherme, Benedetti Vasques, Gabriela Maria, Martins Leal, Leonardo

Publikováno v: Revista de Ciência Veterinária e Saúde Pública; v. 9 n. 1 (2022): V.9 N.1 2022; 133-144
Revista de Ciência Veterinária e Saúde Pública
Universidade Estadual de Maringá (UEM)
instacron:UEM

The objective was to evaluate the degree of medial tibial rotation after hip luxation to prove the influence of the position of the hip joint on the etiopathogenesis of medial patellar luxation in dogs. Qualitative analyzes were performed on ten dog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::bcdf5f709ec08cb83f9075de1746ff29
https://periodicos.uem.br/ojs/index.php/RevCiVet/article/view/56891

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Supplemental Table 2: The lines of computational evidence applied in our genetic study to support a deleterious effect on the gene or gene product (supporting pathogenic criterion - PP3 in ACMG/AMP, ���4/7 in silico tools)

Autor: Andrade, Nathalia L. M., Funari, Mariana F A, Alexsandra C Malaquias, Collett-Solberg, Paulo Ferrez, Gomes, Nathalia, Scalco, Renata C, Naiara C. B. Dantas, Rezende, Raissa C., Tib��rcio, Angelica M. F. P., Souza, Micheline A. R., Freire, Bruna, Krepischi, Ana CV, Longui, Carlos, Lerario, Antonio Marcondes, Arnhold, Ivo, Jorge, Alexander A L, Vasques, Gabriela A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bfa011c974226a1b645495aa08c9d06f