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American Journal of Medical Genetics
|
September 20, 2002
CFC index for the diagnosis of cardiofaciocutaneous syndrome
M I Kavamura, C A Peres, M M A Alchorne, et al.
Human Mutation
|
April 3, 1999
Identification of 8 new mutations in Brazilian families with Marfan syndrome. Mutations in brief no. 211. Online
A B Perez, L V Pereira, D Brunoni, et al.
American Journal of Medical Genetics
|
October 1, 1986
Duchenne muscular dystrophy in a girl with an (X;15) translocation
M C Ribeiro, M I Melaragno, B Schmidt, et al.
Molecular Genetics and Metabolism
|
June 27, 2002
Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefèvre syndrome
P S Hart, D Pallos, Y Zhang, et al.
Genetics and Molecular Research : GMR
|
November 23, 2006
Screening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNA
D M Christofolini, M V N Lipay, M A P Ramos, et al.
Progress in Clinical and Biological Research
|
January 1, 1985
Birth defects and environmental pollution: the Cubatão example
R Monteleone-Neto, D Brunoni, R Laurenti, et al.
American Journal of Medical Genetics. Part A
|
August 19, 2004
Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation
S S Takeno, M Corbani, J A D Andrade, et al.
Pediatric Radiology
|
November 7, 1999
Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia. Case report and review
M F Galera, F R de Silva Patrício, H M Lederman, et al.
Archives of Oral Biology
|
April 5, 2001
Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta
D Pallos, P S Hart, J R Cortelli, et al.
Annales De Genetique
|
January 1, 1992
A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease
M I Melaragno, D Brunoni, F R Patrício, et al.
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Search research articles
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Showing results (11-20 of 37) with videos related to
Sort By:
Page
of 4
American Journal of Medical Genetics
|
September 20, 2002
CFC index for the diagnosis of cardiofaciocutaneous syndrome
M I Kavamura, C A Peres, M M A Alchorne, et al.
Human Mutation
|
April 3, 1999
Identification of 8 new mutations in Brazilian families with Marfan syndrome. Mutations in brief no. 211. Online
A B Perez, L V Pereira, D Brunoni, et al.
American Journal of Medical Genetics
|
October 1, 1986
Duchenne muscular dystrophy in a girl with an (X;15) translocation
M C Ribeiro, M I Melaragno, B Schmidt, et al.
Molecular Genetics and Metabolism
|
June 27, 2002
Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefèvre syndrome
P S Hart, D Pallos, Y Zhang, et al.
Genetics and Molecular Research : GMR
|
November 23, 2006
Screening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNA
D M Christofolini, M V N Lipay, M A P Ramos, et al.
Progress in Clinical and Biological Research
|
January 1, 1985
Birth defects and environmental pollution: the Cubatão example
R Monteleone-Neto, D Brunoni, R Laurenti, et al.
American Journal of Medical Genetics. Part A
|
August 19, 2004
Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation
S S Takeno, M Corbani, J A D Andrade, et al.
Pediatric Radiology
|
November 7, 1999
Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia. Case report and review
M F Galera, F R de Silva Patrício, H M Lederman, et al.
Archives of Oral Biology
|
April 5, 2001
Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta
D Pallos, P S Hart, J R Cortelli, et al.
Annales De Genetique
|
January 1, 1992
A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease
M I Melaragno, D Brunoni, F R Patrício, et al.
Page
of 4