E-LIB Suche - Ergebnisse für: Passos-Bueno, M.Rita

1

A family with McLeod syndrome and calpainopathy with clinic..:

Starling, A. ; Schlesinger, D. ; Kok, F....
Neurology. 65 (2005) 11 - p. 1832-1833 , 2005

Link: https://doi.org/10.1212/..

2

A new three allele polymorphism at distal 21q22.3, a region..:

Serti�, Andr�a L. ; Brahe, Christina ; Passos-Bueno, M. Rita
Human Mutation. 13 (1999) 2 - p. 170-170 , 1999

Link: https://doi.org/10.1002/..

3

Linkage Analysis in a Large Brazilian Family with van der W..:

Sertié, Andréa L. ; Sousa, Andreza V. ; Steman, Silvio..
The American Journal of Human Genetics. 65 (1999) 2 - p. 433-440 , 1999

Link: https://doi.org/10.1086/..

4

Analysis of a novel functional polymorphism within the prom..:

de Oliveira, Jo�o R. Mendes ; Otto, Paulo A. ; Vallada, Homero...
American Journal of Medical Genetics. 81 (1998) 3 - p. 225-227 , 1998

Link: https://doi.org/10.1002/..

5

Absence of calpain 3 in a form of limb-girdle muscular dyst..:

Spencer, Melissa J ; Tidball, James G ; Anderson, Louise V.B...
Journal of the Neurological Sciences. 146 (1997) 2 - p. 173-178 , 1997

Link: https://doi.org/10.1016/..

6

Confirmation of the 2p Locus for the Mild Autosomal Recessi..:

Passos-Bueno, M.Rita ; Bashir, Ramaisa ; Moreira, Eloisa S....
Genomics. 27 (1995) 1 - p. 192-195 , 1995

Link: https://doi.org/10.1006/..

7

Molecular characterization of further dystrophin gene micro..:

King, Sandra C. ; Roche, Anya L. ; Passos-Bueno, M. Rita...
Molecular and Cellular Probes. 9 (1995) 5 - p. 361-370 , 1995

Link: https://doi.org/10.1016/..

8

Knobloch syndrome in a large Brazilian consanguineous famil..:

Passos-Bueno, M. Rita ; Marie, Suely K. ; Monteiro, Mario...
American Journal of Medical Genetics. 52 (1994) 2 - p. 170-173 , 1994

Link: https://doi.org/10.1002/..

9

No evidence of genetic heterogeneity in Brazilian facioscap..:

Passos-Bueno, M.Rita ; Wijmenga, Cisca ; Takata, Reinaldo E....
Human Molecular Genetics. 2 (1993) 5 - p. 557-562 , 1993

Link: https://doi.org/10.1093/..

10

Genetic heterogeneity for Duchenne-like muscular dystrophy ..:

Passos-Bueno, M.Rita ; Oilvelra, Joāo R. ; Bakker, Egbert...
Human Molecular Genetics. 2 (1993) 11 - p. 1945-1947 , 1993

Link: https://doi.org/10.1093/..

11

Exclusion of the gene responsible for facioscapulohumeral m..:

Passos-Bueno, M.Rita ; Byth, Barbara ; Love, Donald...
Journal of the Neurological Sciences. 102 (1991) 2 - p. 206-208 , 1991

Link: https://doi.org/10.1016/..

12

Cellular interference in craniofrontonasal syndrome: males ..:

Twigg, Stephen R.F. ; Babbs, Christian ; van den Elzen, Marijke E.P....
Human Molecular Genetics. 22 (2013) 8 - p. 1654-1662 , 2013

Link: https://doi.org/10.1093/..

13

TCOF1 mutation database: Novel mutation in the alternativel..:

Splendore, Alessandra ; Fanganiello, Roberto D. ; Masotti, Cibele..
Human Mutation. 25 (2005) 5 - p. 429-434 , 2005

Link: https://doi.org/10.1002/..

14

Limb-girdle syndrome: a genetic study of 22 large Brazilian..:

Rita Passos-Bueno, M. ; Vainzof, Mariz ; de Cássia, Rita...
Journal of the Neurological Sciences. 103 (1991) 1 - p. 65-75 , 1991

Link: https://doi.org/10.1016/..

15

An evolutionary perspective on complex neuropsychiatric dis..:

McClellan, Jon M. ; Zoghbi, Anthony W. ; Buxbaum, Joseph D....
Neuron. 112 (2024) 1 - p. 7-24 , 2024

Link: https://doi.org/10.1016/..