Concepedia

Gemma Marfany

GM

55

Publications

2.2K

Citations

28

H-Index

1991

Active since

Affiliations

Universitat de Barcelona(Current)

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Instituto de Investigación de Enfermedades Raras

Institut de Biomedicina de la Universitat de Barcelona

Gemma Marfany is an author at Universitat de Barcelona specializing in medicine, genetics, and molecular genetics.

ORCID

Top concepts

Publications per year

1991–2023

55

Publications

55

ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins

Lars Hjelmqvist, Miquel Tuson, Gemma Marfany et al. · Genome biology · 2002 · 192 citations · Full text

Mutation of CERKL, a Novel Human Ceramide Kinase Gene, Causes Autosomal Recessive Retinitis Pigmentosa (RP26)

Miquel Tuson, Gemma Marfany, Roser Gonzàlez‐Duarte · The American Journal of Human Genetics · 2004 · 187 citations · Full text

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High copy number of highly similar mariner-like transposons in planarian (Platyhelminthe): evidence for a trans-phyla horizontal transfer.

Jordi García‐Fernàndez, José R. Bayascas, Gemma Marfany et al. · Molecular Biology and Evolution · 1995 · 91 citations · Full text

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Autosomal Recessive Retinitis Pigmentosa with Early Macular Affectation Caused by Premature Truncation in<i>PROM1</i>

Jon Permanyer, Rafael Navarro, James S. Friedman et al. · Investigative Ophthalmology & Visual Science · 2010 · 82 citations · Full text

Characterization of alternatively spliced products and tissue-specific isoforms of USP28 and USP25

Rebeca Valero, Mónica Bayés, M Francisca Sánchez-Font et al. · Genome biology · 2001 · 69 citations · Full text

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