Concepedia
Statistics
Publications
4
Citations
70
H-Index
Active since
1995
Affiliations
München Klinik(Current)
Vanderbilt University
Hospital de Clínicas de Porto Alegre
Klinik und Poliklinik für Orthopädie, Physikalische Medizin und Rehabilitation
R. Giugliani is an author at München Klinik specializing in medicine, genomics, and genetics.
Top concepts
GeneticsGenomicsMedicineEpidemiologyPublic HealthGenetic AnalysisClinical GeneticsGenetic VariationPopulation GeneticsGenetic Epidemiology
Publications per year
1995–1997
Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution.
Salmo Raskin, John A. Phillips, M.R.S. Krishnamani et al. · PubMed · 1997 · 19 citations
Genetics, Genetic Epidemiology, Pathology +20
Mutations in the galactose‐1‐phosphate uridyltransferase gene of two families with mild galactosaemia variants
Marcia Sommer, Birgit Gathof, Teodor Podskarbi et al. · Journal of Inherited Metabolic Disease · 1995 · 18 citations
Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia
Yoon S. Shin, Birgit Gathof, Teodor Podskarbi et al. · European Journal of Pediatrics · 1996 · 17 citations
Missense Mutations, Cellular Enzymology, Genetics +8
Regional distribution of cystic fibrosis-linked DNA haplotypes in Brazil: multicenter study.
Salmo Raskin, Jennifer A. Philips, M.R.S. Krishnamani et al. · PubMed · 1997 · 16 citations
Genetic Testing, Genetics, Genetic Epidemiology +17
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