Aida Font - Concepedia

Author

Aida Font

Also Known As

A Font, A. Font, A. P. Font, Aida Font

Publications

439

Citations

H-Index

Concepts

All Affiliations

Aida Font is an author at Consejo Superior de Investigaciones Científicas specializing in urology, molecular diagnostics, and bioinformatics.

#	Concept	H-Index	Publications	Citations
1	Medicine	1	1	17
2	Molecular Biology	1	1	17
3	Molecular Genetics	1	1	17
4	Pathology	1	1	17
5	Genetics	1	1	17

Aida Font

Publications

437

Citations

H-Index

Page 1

	Year	Citations
A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins Aleix Navarro‐Sastre, Frederic Tort, Oliver Stehling, The American Journal of Human Genetics	2011	278
Mapping the Gene Causing Hereditary Primary Hyperparathyroidism in a Portuguese Kindred to Chromosome 1q22-q31 Catherine Williamson, Branca Cavaco, A. Jauch, Journal of Bone and Mineral Research	1999	47
Protein expression profiles in patients carrying <i>NFU1</i> mutations. Contribution to the pathophysiology of the disease Xènia Ferrer-Cortés, Aida Font, Núria Bujan, Journal of Inherited Metabolic Disease	2012	33
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain Ester Quintana, Merçè Pineda, Aida Font, Journal of Inherited Metabolic Disease	2010	32
PDH E<sub>1</sub>β deficiency with novel mutations in two patients with Leigh syndrome Ester Quintana, Johannes A. Mayr, M. T. García Silva, Journal of Inherited Metabolic Disease	2009	30
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria Frederic Tort, Mireia del Toro, Willy Lissens, Clinical Genetics GeneticsPathologyMolecular BiologyMolecular GeneticsDisease Gene Identification	2011	17

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