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Publication date	- (ex : 2010-2015)

PLP1 gene analysis in 88 patients with leukodystrophy

Academic Journal

Martínez-Montero, P; Muñoz-Calero, M; Vallespín, E; Campistol, J; Martorell, L; Ruiz-Falcó, M J; Santana, A; Pons, R; Dinopoulos, A; Sierra, C; Nevado, J; Molano, J

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The EVI-genoret phenotype/genotype patient data base: a pan-European tool for retinal dystrophies and age related macular degeneration

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ZRENNER, E; WILKE, R; TROEGER, E; AYUSO, C; VALLESPIN, E; SILVA, E; SCHOLL, H P; BELLMANN, C; RIPP, R; POCH, O; CUNHA-VAZ, J; SAHEL, J A; CHAKRAVARTHY, U; MOORE, T

Acta Ophthalmologica Scandinavica. Sep 01, 2007 85 Suppl 240

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The phenotype of retinal dystrophy in patients with CERKL mutations

Academic Journal

WILKE, R; AVILA-FERNÁNDEZ, A; TAPIA, I; GARCIA-SANDOVAL, B; CANTALAPIEDRA, D; VALLESPIN, E; AYUSO, C

Acta Ophthalmologica Scandinavica. Sep 01, 2007 85 Suppl 240

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Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease

Academic Journal

Riveiro-Alvarez, R; Aguirre-Lamban, J; Lopez-Martinez, Angel M; Trujillo-Tiebas, Jose M; Cantalapiedra, D; Vallespin, E; Avila-Fernandez, A; Ramos, C; Ayuso, C

British Journal of Ophthalmology. Oct 01, 2009 93(10):1359-1364

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Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants

Academic Journal

Aguirre-Lamban, J; Riveiro-Alvarez, R; Maia-Lopes, S; Cantalapiedra, D; Vallespin, E; Avila-Fernandez, A; Villaverde-Montero, C; Trujillo-Tiebas, M J; Ramos, C; Ayuso, C

British Journal of Ophthalmology. May 01, 2009 93(5):614-621

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The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGF beta and Activin pathways

Electronic Resource

Garcia, M; Barrio, R; Garcia-Lavandeira, M; Garcia-Rendueles, AR; Escudero, A; Diaz-Rodriguez, E; del Blanco, DG; Fernandez, A; de Rijke, Yolanda; Vallespin, E; Nevado, J; Lapunzina, P; Matre, V; Hinkle, PM; Hokken - Koelega, Anita; de Miguel, MP; Cameselle-Teijeiro, JM; Nistal, M; Alvarez, CV; Moreno, JC

Garcia , M , Barrio , R , Garcia-Lavandeira , M , Garcia-Rendueles , AR , Escudero , A , Diaz-Rodriguez , E , del Blanco , DG , Fernandez , A , de Rijke , Y , Vallespin , E , Nevado , J , Lapunzina , P , Matre , V , Hinkle , PM , Hokken - Koelega , A , de Miguel , MP , Cameselle-Teijeiro , JM , Nistal , M , Alvarez , CV & Moreno , JC 2017 , ' The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGF beta and Activin pathways ' , Scientific Reports , vol. 7 .

Open Access (OAIster)

The EVI-genoret phenotype / genotype patient data base: a pan-European tool for retinal dystrophies and age related macular degeneration

Periodical

ZRENNER, E; WILKE, R; TROEGER, E; AYUSO, C; VALLESPIN, E; SILVA, E; SCHOLL, HP; BELLMANN, C; RIPP, R; POCH, O; CUNHA-VAZ, J; SAHEL, JA; CHAKRAVARTHY, U; MOORE, T

Acta Ophthalmologica Scandinavica; September 2007, Vol. 85 Issue: Supplement 240 p0, 1p

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