Maria Hoyos-Garcia
Valencia, VC, Spain
Last Updated: 09/26/2026
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Found 35 publications
Steroids for familial acute necrotizing encephalopathy: A future investment?
Journal: Clinical neurology and neurosurgery
Published: November 05, 2017
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.
Journal: PloS one
Published: December 07, 2015
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.
Journal: Neuromuscular disorders : NMD
Published: June 17, 2015
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis.
Journal: Human genetics
Published: April 14, 2011
Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21.
Journal: Journal of assisted reproduction and genetics
Published: January 25, 2011
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
Journal: Human genetics
Published: January 29, 2010
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
Journal: Human genetics
Published: January 29, 2010
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA).
Journal: Human genetics
Published: January 29, 2010
Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene.
Journal: Investigative ophthalmology & visual science
Published: December 05, 2009
Last Updated: 09/26/2026