Concepedia
Statistics
Publications
6
Citations
264
H-Index
Active since
1999
Affiliations
University of Trieste(Current)
IRCCS Materno Infantile Burlo Garofolo
Azienda Ospedaliero Universitaria San Giovanni Battista
Daniela Puzzer is an author at University of Trieste specializing in medical genetics, life sciences, and genetic disorders.
Publications per year
1999–2001
Identification of a New Locus for Medullary Cystic Disease, on Chromosome 16p12
Francesco Scolari, Daniela Puzzer, Antonio Amoroso et al. · The American Journal of Human Genetics · 1999 · 110 citations · Full text
Life Sciences, Genetics, Molecular Genetics +10
AGXT Gene Mutations and Their Influence on Clinical Heterogeneity of Type 1 Primary Hyperoxaluria
Antonio Amoroso, Doroti Pirulli, Fiorella Florian et al. · Journal of the American Society of Nephrology · 2001 · 57 citations · Full text
Life Sciences, Genetics, Molecular Genetics +15
Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine : glyoxylate aminotransferase gene
Doroti Pirulli, Daniela Puzzer, Laura Ferri et al. · Human Genetics · 1999 · 41 citations
Life Sciences, Genetics, Molecular Genetics +9
Rapid Method for Detection of Extra (TA) in the Promoter of the Bilirubin-UDP-Glucuronosyl Transferase 1 Gene Associated with Gilbert Syndrome
Doroti Pirulli, Mara Giordano, Daniela Puzzer et al. · Clinical Chemistry · 2000 · 30 citations · Full text
Life Sciences, Genetics, Molecular Genetics +13
Detection of MRP1 mRNA in Human Tumors and Tumor Cell Lines by in Situ RT-PCR
Lorella Pascolo, Cristina Fernetti, Doroti Pirulli et al. · Biochemical and Biophysical Research Communications · 2000 · 14 citations
Medicine, Molecular Biology, Oncology +6
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