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Anales De Pediatria (Barcelona, Spain : 2003)
|
January 25, 2015
[Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases]
M Fenollar-Cortés, E Lara-Orejas, A González-Meneses, et al.
Human Genetics
|
June 29, 2007
Gene symbol: RP2
Cristina Villaverde-Montero, M García-Hoyos, A Giménez-Pardo, et al.
Medicina Clinica
|
June 5, 1998
[The Pro347Leu mutation of the rhodopsin gene in a Spanish family with autosomal dominant pigmentary retinosis]
M J Trujillo, T del Río, C Reig, et al.
Human Genetics
|
February 14, 2007
Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510
E Vallespin, D Cantalapiedra, M Garcia-Hoyos, et al.
Human Genetics
|
September 20, 2007
Novel human pathological mutations. Gene symbol: GUCY2D. Disease: early onset retinitis pigmentosa
A Avila-Fernandez, E Vallespin, D Cantalapiedra, et al.
Archivos De La Sociedad Espanola De Oftalmologia
|
April 20, 2013
Guidelines for genetic study of aniridia
F Blanco-Kelly, C Villaverde-Montero, I Lorda-Sánchez, et al.
Human Genetics
|
April 4, 2008
Gene symbol: BEST1. Disease: Best macular dystrophy
Susana Maia-Lopes, M Castelo-Branco, E Silva, et al.
Human Genetics
|
September 20, 2007
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease
Jana Aguirre-Lamban, R Riveiro-Alvarez, D Cantalapiedra, et al.
Human Genetics
|
September 20, 2007
Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia
Cristina Villaverde, M J Trujillo-Tiebas, M Garcia-Hoyos, et al.
Human Genetics
|
April 4, 2008
Gene symbol: BEST1. Disease: Best macular dystrophy
Susana Maia-Lopes, M Castelo-Branco, E Silva, et al.
Page
of 13
Search research articles
Search
Showing results (31-40 of 128) with videos related to
Sort By:
Page
of 13
Anales De Pediatria (Barcelona, Spain : 2003)
|
January 25, 2015
[Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases]
M Fenollar-Cortés, E Lara-Orejas, A González-Meneses, et al.
Human Genetics
|
June 29, 2007
Gene symbol: RP2
Cristina Villaverde-Montero, M García-Hoyos, A Giménez-Pardo, et al.
Medicina Clinica
|
June 5, 1998
[The Pro347Leu mutation of the rhodopsin gene in a Spanish family with autosomal dominant pigmentary retinosis]
M J Trujillo, T del Río, C Reig, et al.
Human Genetics
|
February 14, 2007
Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510
E Vallespin, D Cantalapiedra, M Garcia-Hoyos, et al.
Human Genetics
|
September 20, 2007
Novel human pathological mutations. Gene symbol: GUCY2D. Disease: early onset retinitis pigmentosa
A Avila-Fernandez, E Vallespin, D Cantalapiedra, et al.
Archivos De La Sociedad Espanola De Oftalmologia
|
April 20, 2013
Guidelines for genetic study of aniridia
F Blanco-Kelly, C Villaverde-Montero, I Lorda-Sánchez, et al.
Human Genetics
|
April 4, 2008
Gene symbol: BEST1. Disease: Best macular dystrophy
Susana Maia-Lopes, M Castelo-Branco, E Silva, et al.
Human Genetics
|
September 20, 2007
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease
Jana Aguirre-Lamban, R Riveiro-Alvarez, D Cantalapiedra, et al.
Human Genetics
|
September 20, 2007
Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia
Cristina Villaverde, M J Trujillo-Tiebas, M Garcia-Hoyos, et al.
Human Genetics
|
April 4, 2008
Gene symbol: BEST1. Disease: Best macular dystrophy
Susana Maia-Lopes, M Castelo-Branco, E Silva, et al.
Page
of 13