-Salmo Raskin Researcher Activity Profile

Research Author Detailed Information 

Salmo Raskin Publication Rate By Year

Salmo Raskin has published 2 paper(s) in 2003, 3 paper(s) in 2005, 4 paper(s) in 2007, 2 paper(s) in 2008, for a total of 11 research publications in total.

Salmo S Raskin Author Information

LAST NAME: raskin

FIRST NAME: salmo

INITIALS: S

AFFILIATION:

Papers

Salmo Raskin's Publication Record

1. Rett syndrome: clinical and molecular characterization of two Brazilian patients. Year Published: 2007
Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
2. Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Year Published: 2005
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
3. Non-choreic movement disorders as initial manifestations of Huntington's disease. Year Published: 2007
4. The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene. Year Published: 2007
5. High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing. Year Published: 2003
Department of Genetics, Section of Clinical Biology, Universidade Federal do Parana, 1526 Curitiba Parana, Brazil 81531-990. genetika@genetika.com.br
6. Rett syndrome: clinical and molecular characterization of two Brazilian patients. Year Published: 2007
Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
7. Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients. Year Published: 2008
Pontificia Universidade Catolica do Parana, Brazil.
8. High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing. Year Published: 2003
Department of Genetics, Section of Clinical Biology, Universidade Federal do Parana, 1526 Curitiba Parana, Brazil 81531-990. genetika@genetika.com.br
9. Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Year Published: 2005
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
10. The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: Phenotype in monozygotic twins. Year Published: 2008
Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil.
11. Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Year Published: 2005
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.