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ABOUT JoVE

Overview Leadership Blog JoVE Help Center

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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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E Vallespin

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Human Genetics|August 21, 2009

Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophyJana Aguirre-Lamban, R Riveiro-Alvarez, D Cantalapiedra, et al.

Human Genetics|April 14, 2011

Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosisE Vallespin, A Avila-Fernandez, B Almoguera, et al.

Clinical Genetics|January 12, 2017

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variantsF Santos-Simarro, E Vallespin, A Del Pozo, et al.

Clinical Genetics|September 12, 2017

mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a reviewG Gordo, J Tenorio, P Arias, et al.

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Search research articles

Showing results (41-50 of 44) with videos related to

Sort By:

Pageof 5

You have reached the last page of results.This site can display upto 44 results.

Human Genetics|August 21, 2009

Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophyJana Aguirre-Lamban, R Riveiro-Alvarez, D Cantalapiedra, et al.

Human Genetics|April 14, 2011

Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosisE Vallespin, A Avila-Fernandez, B Almoguera, et al.

Clinical Genetics|January 12, 2017

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variantsF Santos-Simarro, E Vallespin, A Del Pozo, et al.

Clinical Genetics|September 12, 2017

mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a reviewG Gordo, J Tenorio, P Arias, et al.

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