Concepedia

Maria Baffico

MB

Statistics

Publications

10

Citations

200

H-Index

10

Active since

1989

Affiliations

Ente Ospedaliero Ospedali Galliera(Current)

University of Turin

University of Genoa

Istituto Giannina Gaslini

Maria Baffico is an author at Ente Ospedaliero Ospedali Galliera specializing in medicine, genetics, and pathology.

Top concepts

Publications per year

1989–2020

10

Publications

10

Duplications upstream and downstream of <i>SHOX</i> identified as novel causes of Leri–Weill dyschondrosteosis or idiopathic short stature

David J. Bunyan, Maria Baffico, Lucia Capone et al. · American Journal of Medical Genetics Part A · 2015 · 32 citations · Full text

Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation

Pierangela De Biasio, Federico Prefumo, Maria Baffico et al. · Prenatal Diagnosis · 2000 · 28 citations

Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs

Federica Natacci, Maria Baffico, Ugo Cavallari et al. · American Journal of Medical Genetics Part A · 2008 · 27 citations

Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype

G Camera, Maurizia Baldi, Giuseppe Strisciuglio et al. · American Journal of Medical Genetics · 2001 · 22 citations

Identification of Mediterranean β-Thalassemia Mutations by Reverse DOT-Blot in Italians and Egyptians

Magdy Rady, Maria Baffico, Amal Khalifa et al. · Hemoglobin · 1997 · 22 citations

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