Fabrizia Faustinella

Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats

Orly Reiner, Romeo Carrozzo, Ying H. Shen et al. · Nature · 1993 · 1.1K citations

Protein Function, Natural Sciences, Genetics +9

Catalytic triad residue mutation (Asp156—-Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447—-Ter) in a Turkish family

Fabrizia Faustinella, Anne M. Chang, J.P. Van Biervliet et al. · Journal of Biological Chemistry · 1991 · 116 citations · Full text

Family Members, Genetics, Molecular Biology +18

Structural and functional roles of highly conserved serines in human lipoprotein lipase. Evidence that serine 132 is essential for enzyme catalysis

Fabrizia Faustinella, Lawrence C. Smith, Clay F. Semenkovich et al. · Journal of Biological Chemistry · 1991 · 86 citations · Full text

The decline of clinical skills: a challenge for medical schools

Fabrizia Faustinella, Robin J. Jacobs · International Journal of Medical Education · 2018 · 76 citations · Full text

Nursing, Education, Patient Education +7

<i>AMLI</i> fusion transcripts in t(3;21) positive leukemia: Evidence of molecular heterogeneity and usage of splicing sites frequently involved in the generation of normal <i>AMLI</i> transcripts

Nicoletta Sacchi, Paul E. Nisson, Paul C. Watkins et al. · Genes Chromosomes and Cancer · 1994 · 43 citations

Mixed-phenotype Acute Leukemia, Genetics, Rna Splicing +18