Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Cone-Rod Dystrophies and ABCA4[original query] |
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ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. European journal of human genetics : EJHG 2008 Jul 16 (7): 812-9. Kitiratschky Veronique B D, Grau Tanja, Bernd Antje, Zrenner Eberhart, Jägle Herbert, Renner Agnes B, Kellner Ulrich, Rudolph Günther, Jacobson Samuel G, Cideciyan Artur V, Schaich Simone, Kohl Susanne, Wissinger Ber |
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. Orphanet journal of rare diseases 2015 10 (1): 85. Boulanger-Scemama Elise, El Shamieh Said, Démontant Vanessa, Condroyer Christel, Antonio Aline, Michiels Christelle, Boyard Fiona, Saraiva Jean-Paul, Letexier Mélanie, Souied Eric, Mohand-Saïd Saddek, Sahel José-Alain, Zeitz Christina, Audo Isabel |
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies. International journal of molecular sciences 2019 10 20 (19): . Boulanger-Scemama Elise, Mohand-Saïd Saddek, El Shamieh Said, Démontant Vanessa, Condroyer Christel, Antonio Aline, Michiels Christelle, Boyard Fiona, Saraiva Jean-Paul, Letexier Mélanie, Sahel José-Alain, Zeitz Christina, Audo Isabel |
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