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Journal of Medical Genetics
|
January 1, 1995
Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families
M R Passos-Bueno, A Cerqueira, M Vainzof, et al.
Nucleic Acids Research
|
August 11, 1991
A new DNA marker, D6S129, identifies a HindIII polymorphism on chromosome 6q
B C Byth, D R Love, M R Passos-Bueno, et al.
Human Molecular Genetics
|
June 1, 1996
Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD
M R Passos-Bueno, E S Moreira, M Vainzof, et al.
American Journal of Medical Genetics
|
June 15, 1991
Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy
D Rapaport, M R Passos-Bueno, L Brandão, et al.
American Journal of Medical Genetics
|
May 30, 1998
Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) families
P Iughetti, P A Otto, M Zatz, 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.
Human Molecular Genetics
|
January 1, 1993
Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?
M Vainzof, R I Takata, M R Passos-Bueno, et al.
Journal of Medical Genetics
|
December 10, 2002
Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree
A Starling, P Rocco, M R Passos-Bueno, et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas
|
March 18, 2011
A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia
R D Fanganiello, V E Kimonis, C C Côrte, et al.
American Journal of Human Genetics
|
July 27, 1999
Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1
A L Sertié, A V Sousa, S Steman, et al.
Page
of 15
Search research articles
Search
Showing results (31-40 of 142) with videos related to
Sort By:
Page
of 15
Journal of Medical Genetics
|
January 1, 1995
Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families
M R Passos-Bueno, A Cerqueira, M Vainzof, et al.
Nucleic Acids Research
|
August 11, 1991
A new DNA marker, D6S129, identifies a HindIII polymorphism on chromosome 6q
B C Byth, D R Love, M R Passos-Bueno, et al.
Human Molecular Genetics
|
June 1, 1996
Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD
M R Passos-Bueno, E S Moreira, M Vainzof, et al.
American Journal of Medical Genetics
|
June 15, 1991
Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy
D Rapaport, M R Passos-Bueno, L Brandão, et al.
American Journal of Medical Genetics
|
May 30, 1998
Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) families
P Iughetti, P A Otto, M Zatz, 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.
Human Molecular Genetics
|
January 1, 1993
Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?
M Vainzof, R I Takata, M R Passos-Bueno, et al.
Journal of Medical Genetics
|
December 10, 2002
Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree
A Starling, P Rocco, M R Passos-Bueno, et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas
|
March 18, 2011
A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia
R D Fanganiello, V E Kimonis, C C Côrte, et al.
American Journal of Human Genetics
|
July 27, 1999
Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1
A L Sertié, A V Sousa, S Steman, et al.
Page
of 15