Veronica Ileana Guerci

Statistics

Publications

Citations

544

H-Index

Active since

2004

Affiliations

IRCCS Materno Infantile Burlo Garofolo(Current)

Ghent University Hospital

Istituti di Ricovero e Cura a Carattere Scientifico

Veronica Ileana Guerci is an author at IRCCS Materno Infantile Burlo Garofolo specializing in genetic disorders, human genetics, and molecular genetics.

Publications per year

2004–2010

Publications

Pseudoxanthoma Elasticum-Like Phenotype with Cutis Laxa and Multiple Coagulation Factor Deficiency Represents a Separate Genetic Entity

Olivier Vanakker, Ludovic Martin, Dealba Gheduzzi et al. · Journal of Investigative Dermatology · 2006 · 198 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Kristien Hoornaert, Inge Vereecke, Chantal Dewinter et al. · European Journal of Human Genetics · 2010 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Substrate reduction therapy in the infantile form of Tay-Sachs disease

Bruno Bembi, Federico Marchetti, Veronica Ileana Guerci et al. · Neurology · 2006 · 75 citations

Medicine, Neurology, Pharmacotherapy +15

Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of<i>in vivo</i>functional in-frame start codon

María Gabriela Pittis, Verena Ricci, Veronica Ileana Guerci et al. · Human Mutation · 2004 · 58 citations

Life Sciences, Genetics, Molecular Genetics +17

Glycogenosis type II: identification and expression of three novel mutations in the acid α-glucosidase gene causing the infantile form of the disease

Anna Lisa E. Montalvo, Roberta Cariati, Marta Deganuto et al. · Molecular Genetics and Metabolism · 2004 · 29 citations

Life Sciences, Genetics, Molecular Genetics +17

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