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American Journal of Medical Genetics. Part A
|
March 18, 2011
Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation
Laura Rodríguez, Julián Nevado, Elena Vallespin, et al.
Gene
|
February 14, 2013
Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element
Cinthia Amiñoso, Elena Vallespin, Luís Fernández, et al.
Genes
|
June 2, 2021
Expanding the Phenotypic Spectrum of <i>PAX6</i> Mutations: From Congenital Cataracts to Nystagmus
Maria Nieves-Moreno, Susana Noval, Jesus Peralta, et al.
Human Genetics
|
November 28, 2006
Gene symbol: CRB1. Disease: early onset retinitis pigmentosa
Elena Vallespin, R Riveiro-Alvarez, J Aguirre-Lamban, et al.
Human Genetics
|
June 29, 2007
Gene symbol: CRB1
Elena Vallespin, R Riveiro-Alvarez, D Cantalapiedra, et al.
Human Genetics
|
April 4, 2008
Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa
Elena Vallespin, D Cantalapiedra, R Riveiro-Alvarez, et al.
Molecular Vision
|
December 15, 2007
Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa
Elena Vallespin, Miguel-Angel Lopez-Martinez, Diego Cantalapiedra, et al.
Investigative Ophthalmology & Visual Science
|
June 3, 2008
CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa
Almudena Avila-Fernandez, Rosa Riveiro-Alvarez, Elena Vallespin, et al.
Human Reproduction (Oxford, England)
|
December 20, 2005
Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach
Dan Diego-Alvarez, Carmen Ramos-Corrales, Maria Garcia-Hoyos, et al.
Human Genetics
|
June 29, 2007
Gene symbol: CRB1
Elena Vallespin, R Riveiro-Alvarez, D Cantalapiedra, et al.
Page
of 3
Search research articles
Search
Showing results (1-10 of 24) with videos related to
Sort By:
Page
of 3
American Journal of Medical Genetics. Part A
|
March 18, 2011
Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation
Laura Rodríguez, Julián Nevado, Elena Vallespin, et al.
Gene
|
February 14, 2013
Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element
Cinthia Amiñoso, Elena Vallespin, Luís Fernández, et al.
Genes
|
June 2, 2021
Expanding the Phenotypic Spectrum of <i>PAX6</i> Mutations: From Congenital Cataracts to Nystagmus
Maria Nieves-Moreno, Susana Noval, Jesus Peralta, et al.
Human Genetics
|
November 28, 2006
Gene symbol: CRB1. Disease: early onset retinitis pigmentosa
Elena Vallespin, R Riveiro-Alvarez, J Aguirre-Lamban, et al.
Human Genetics
|
June 29, 2007
Gene symbol: CRB1
Elena Vallespin, R Riveiro-Alvarez, D Cantalapiedra, et al.
Human Genetics
|
April 4, 2008
Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa
Elena Vallespin, D Cantalapiedra, R Riveiro-Alvarez, et al.
Molecular Vision
|
December 15, 2007
Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa
Elena Vallespin, Miguel-Angel Lopez-Martinez, Diego Cantalapiedra, et al.
Investigative Ophthalmology & Visual Science
|
June 3, 2008
CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa
Almudena Avila-Fernandez, Rosa Riveiro-Alvarez, Elena Vallespin, et al.
Human Reproduction (Oxford, England)
|
December 20, 2005
Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach
Dan Diego-Alvarez, Carmen Ramos-Corrales, Maria Garcia-Hoyos, et al.
Human Genetics
|
June 29, 2007
Gene symbol: CRB1
Elena Vallespin, R Riveiro-Alvarez, D Cantalapiedra, et al.
Page
of 3