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Human Genetics
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October 11, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy
Jana Aguirre-Lamban, R Riveiro-Alvarez, D Cantalapiedra, et al.
Molecular Vision
|
February 6, 2007
Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease
R Riveiro-Alvarez, D Valverde, I Lorda-Sanchez, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia
|
March 11, 2008
Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers
A Bustamante-Aragones, M Rodriguez de Alba, C Gonzalez-Gonzalez, et al.
The British Journal of Ophthalmology
|
November 4, 2008
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease
R Riveiro-Alvarez, J Aguirre-Lamban, M Angel Lopez-Martinez, et al.
Human Genetics
|
March 26, 2009
Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis
Carmen-Laura Auz-Alexandre, E Vallespin, J Aguirre-Lamban, et al.
Human Genetics
|
April 4, 2008
Human gene mutations. Gene symbol: ABCA4. Disease: Stargardt disease
Jana Aguirre Lamban, R Riveiro-Alvarez, D Cantalapiedra, et al.
Human Genetics
|
April 2, 2008
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease
Jana Aguirre, R Riveiro-Alvarez, D Cantalapiedra, et al.
The British Journal of Ophthalmology
|
November 26, 2008
Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants
J Aguirre-Lamban, R Riveiro-Alvarez, S Maia-Lopes, et al.
Archivos De La Sociedad Espanola De Oftalmologia
|
June 3, 2017
Next generation sequencing in the diagnosis of Stargardt's disease
B Jimenez-Rolando, S Noval, I Rosa-Perez, et al.
Human Genetics
|
August 21, 2009
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease
Jana Aguirre-Lamban, R Riveiro-Alvarez, M Garcia-Hoyos, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 44) with videos related to
Sort By:
Page
of 5
Human Genetics
|
October 11, 2008
Gene symbol: ABCA4. Disease: Macular dystrophy
Jana Aguirre-Lamban, R Riveiro-Alvarez, D Cantalapiedra, et al.
Molecular Vision
|
February 6, 2007
Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease
R Riveiro-Alvarez, D Valverde, I Lorda-Sanchez, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia
|
March 11, 2008
Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers
A Bustamante-Aragones, M Rodriguez de Alba, C Gonzalez-Gonzalez, et al.
The British Journal of Ophthalmology
|
November 4, 2008
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease
R Riveiro-Alvarez, J Aguirre-Lamban, M Angel Lopez-Martinez, et al.
Human Genetics
|
March 26, 2009
Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis
Carmen-Laura Auz-Alexandre, E Vallespin, J Aguirre-Lamban, et al.
Human Genetics
|
April 4, 2008
Human gene mutations. Gene symbol: ABCA4. Disease: Stargardt disease
Jana Aguirre Lamban, R Riveiro-Alvarez, D Cantalapiedra, et al.
Human Genetics
|
April 2, 2008
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease
Jana Aguirre, R Riveiro-Alvarez, D Cantalapiedra, et al.
The British Journal of Ophthalmology
|
November 26, 2008
Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants
J Aguirre-Lamban, R Riveiro-Alvarez, S Maia-Lopes, et al.
Archivos De La Sociedad Espanola De Oftalmologia
|
June 3, 2017
Next generation sequencing in the diagnosis of Stargardt's disease
B Jimenez-Rolando, S Noval, I Rosa-Perez, et al.
Human Genetics
|
August 21, 2009
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease
Jana Aguirre-Lamban, R Riveiro-Alvarez, M Garcia-Hoyos, et al.
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of 5