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Elena Vallespin

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Molecular Vision|March 13, 2008
Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosaRosa Riveiro-Alvarez, Elena Vallespin, Robert Wilke, et al.
Human Genetics|January 29, 2010
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA)Elena Vallespin, A Avila-Fernandez, B Almoguera, et al.
Human Genetics|January 29, 2010
Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosisElena Vallespin, A Avila-Fernandez, C Velez-Monsalve, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|December 14, 2011
Uveal melanoma in a 19-month-old childAnna Grabowska, José Abelarias, Jesús Peralta, et al.
Molecular Vision|August 7, 2008
Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosisAna Bustamante-Aragones, Elena Vallespin, Marta Rodriguez de Alba, et al.
Investigative Ophthalmology & Visual Science|December 7, 2007
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarrayElena Vallespin, Diego Cantalapiedra, Rosa Riveiro-Alvarez, et al.
Investigative Ophthalmology & Visual Science|April 4, 2008
New type of mutations in three spanish families with choroideremiaMaria Garcia-Hoyos, Isabel Lorda-Sanchez, Pilar Gómez-Garre, et al.
Human Mutation|July 22, 2017
FGF9 mutation causes craniosynostosis along with multiple synostosesMaria Rodriguez-Zabala, Miriam Aza-Carmona, Carlos I Rivera-Pedroza, et al.
Annals of Neurology|January 3, 2025
Phenotype Spectrum of TRPM3-Associated DisordersLaura Jolitz, Ingo Helbig, Mark P Fitzgerald, et al.
Clinical Genetics|January 23, 2026
Chromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2-q24.3 LocusJair Tenorio-Castano, Marta Feito, Raúl de Lucas, et al.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
Molecular Vision|March 13, 2008
Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosaRosa Riveiro-Alvarez, Elena Vallespin, Robert Wilke, et al.
Human Genetics|January 29, 2010
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA)Elena Vallespin, A Avila-Fernandez, B Almoguera, et al.
Human Genetics|January 29, 2010
Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosisElena Vallespin, A Avila-Fernandez, C Velez-Monsalve, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|December 14, 2011
Uveal melanoma in a 19-month-old childAnna Grabowska, José Abelarias, Jesús Peralta, et al.
Molecular Vision|August 7, 2008
Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosisAna Bustamante-Aragones, Elena Vallespin, Marta Rodriguez de Alba, et al.
Investigative Ophthalmology & Visual Science|December 7, 2007
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarrayElena Vallespin, Diego Cantalapiedra, Rosa Riveiro-Alvarez, et al.
Investigative Ophthalmology & Visual Science|April 4, 2008
New type of mutations in three spanish families with choroideremiaMaria Garcia-Hoyos, Isabel Lorda-Sanchez, Pilar Gómez-Garre, et al.
Human Mutation|July 22, 2017
FGF9 mutation causes craniosynostosis along with multiple synostosesMaria Rodriguez-Zabala, Miriam Aza-Carmona, Carlos I Rivera-Pedroza, et al.
Annals of Neurology|January 3, 2025
Phenotype Spectrum of TRPM3-Associated DisordersLaura Jolitz, Ingo Helbig, Mark P Fitzgerald, et al.
Clinical Genetics|January 23, 2026
Chromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2-q24.3 LocusJair Tenorio-Castano, Marta Feito, Raúl de Lucas, et al.
Pageof 3