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Resultados da Busca: Foram encontrado(s) 169 registro(s)

Pinheiro FC, Sperb-Ludwig F, Ligabue-Braun R, Schüler-Faccini L, de Souza CFM, Vairo F, Schwartz IVD.

Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency.

Polese-Bonatto M, Bock H, Farias ACS, Mergener R, Matte MC, Gil MS, Nepomuceno F, Souza FTS, Gus R, Giugliani R, Saraiva-Pereira ML.

Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1
Gene.

Taylor M, Khan S, Stapleton M, Wang J, Chen J, Wynn R, Yabe H, Chinen Y, Boelens JJ, Mason RW, Kubaski F, Horovitz DDG, Barth AL, Serafini M, Bernardo ME, Kobayashi H, Orii KE, Suzuki Y, Orii T, Tomatsu S

Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future.

Pedroso JL, de Souza PV, Pinto WB, Braga-Neto P, Albuquerque MV, Saraiva-Pereira ML, Jardim LB, Barsottini OG

SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group.

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