Concepedia

Pia E. Vuorela

PE

2

Publications

73

Citations

2

H-Index

2007

Active since

Affiliations

University of Turku(Current)

Institute for Molecular Medicine Finland

Turku University Hospital

Pia E. Vuorela is an author at University of Turku specializing in molecular genetics, genetics, and medicine.

Top concepts

GeneticsMedicineMolecular GeneticsPathologyPediatricsClinical GeneticsMolecular BiologyMolecular MedicineGenetic EpidemiologyInherited Metabolic Disease

Publications per year

2007–2008

2

Publications

2

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

Pia E. Vuorela, Sirpa Ala‐Mello, Carola Saloranta et al. · Genetics in Medicine · 2007 · 48 citations

Genetic Disorder, Genetics, Charge Syndrome +6

A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features

Pia E. Vuorela, Maila Penttinen, Marja Hietala et al. · Clinical Dysmorphology · 2008 · 25 citations

Familial Charge Syndrome, Mendelian Disorder, Family Members +15

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