E-LIB Suche - Ergebnisse für: Artigalas, Osvaldo Alfonso Pinto

1

Inclusion of medical genetics in primary health care: repor..:

Vieira, Taiane Alves ; Giugliani, Camila ; da Silva, Larissa Pozzebon...
Journal of Community Genetics. 4 (2012) 1 - p. 137-145 , 2012

Link: https://doi.org/10.1007/..

2

Elevated holo-transcobalamin in Gaucher disease type II : a..:

Basgalupp, Suelen Porto ; Donis, Karina Carvalho ; Siebert, Marina...
American journal of medical genetics. Part A. Hoboken. Vol. 185A (2021), p. 2471–2476.. , 2021

Link: http://hdl.handle.net/10..

3

Reassessment of BRCA1/2 variants of unknown significance : ..:

Souza, Kayana Isabel Weber de ; Andreis, Tiago Finger ; Beserra, Bárbara Alemar...
Clinical and biomedical research. Porto Alegre. , 2021

Link: http://hdl.handle.net/10..

4

Clinical and molecular characterization of patients fulfill..:

Bittar, Camila Matzenbacher ; Rocha, Yasminne Marinho de Araújo ; Vieira, Igor Araújo...
PloS one. San Francisco. Vol. 16, no. 9 (Sept. 2021), e0251639, 12 p.. , 2021

Link: http://hdl.handle.net/10..

5

Diagnosis and management of classica homocystinuria in Braz..:

POLONI, Soraia ; HOSS, Giovana Regina Weber ; SPERB-LUDWIG, Fernanda...
Journal of Inborn Errors of Metabolism & Screening. , 2019

Link: http://repositorio.ufpa...

6

Screening and characterization of BRCA2 C.157_157insalu in ..:

Alemar, Bárbara ; Felicio, Paula Silva ; Ewald, Ingrid Petroni...
Clinical and biomedical research. Porto Alegre. , 2018

Link: http://hdl.handle.net/10..

7

The germline mutational landscape of BRCA1 and BRCA2 in Bra..:

Palmero, Edenir Inêz ; Carraro, Dirce Maria ; Alemar, Bárbara...
Scientific reports. London. Vol. 8, No. 1, (Sept. 2018), 9188, 1-10 p.. , 2018

Link: http://hdl.handle.net/10..

8

BRCA1 and BRCA2 mutational profile and prevalence in heredi..:

Temes, Bárbara Alemar Beserra ; Silva, Cleandra Gregório ; Herzog, Josef...
PLoS ONE. San Francisco. Vol. 12, no. 11 (Nov. 2017), p. e0187630, 18 p.. , 2017

Link: http://hdl.handle.net/10..

9

BRCA1 and BRCA2 mutational profile, prevalence and testing ..:

Alemar, Bárbara ; Gregório, Cleandra ; Herzog, Josef...
Clinical and biomedical research. Porto Alegre. , 2017

Link: http://hdl.handle.net/10..

10

IRMÃOS AFETADOS PELA SÍNDROME DE ECTRODACTILIA, DISPLASIA E..:

Rosa, Rafael Fabiano Machado ; Moraes, Samir Abou Ghaouche de ; Sulczinski, Leonardo Paludo...
10.1590/1984-0462/;2017;35;2;00017. , 2017

Link: http://www.scielo.br/sci..

11

Leprosy in southern Brazil : a twenty-year epidemiological ..:

Nazario, Ana Paula ; Ferreira, Jair ; Faccini, Lavinia Schuler...
Revista da Sociedade Brasileira de Medicina Tropical. Brasília. Vol. 50, no. 2 (mar./apr. 2017), p. 251-255. , 2017

Link: http://hdl.handle.net/10..

12

SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND ..:

Rosa, Rafael Fabiano Machado ; de Moraes, Samir Abou Ghaouche ; Sulczinski, Leonardo Paludo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496721/. , 2017

Link: http://www.ncbi.nlm.nih...

13

Estudo farmacogenético e farmacoeconômico em pacientes bras..:

Artigalas, Osvaldo Alfonso Pinto
http://hdl.handle.net/10183/142198. , 2015

Link: http://hdl.handle.net/10..

14

Influence of CYP19A1 polymorphisms on the treatment of brea..:

Artigalas, Osvaldo Alfonso Pinto ; Vanni, Tázio ; Hutz, Mara Helena..
BMC medicine. Londres. Vol. 13, no. 139 (2015), p. 1-10. , 2015

Link: http://hdl.handle.net/10..

15

Terapia de reposição enzimática para as mucopolissacaridose..:

GIUGLIANI, Roberto ; FEDERHEN, Andressa ; MUÑOZ ROJAS, Maria Verónica...
GIUGLIANI, Roberto et al. Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros. Revista da Associação Médica Brasileira, São Paulo, v. 56, n. 3, p. 271-277, 2010. Disponível em: . Acesso em: 13 fev. 2014. .. , 2014

Link: http://repositorio.ufpa...