Sökresultat - Y. Perdomo-Trujillo
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1
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly av Élise Schaefer, Ariane Zaloszyc, Julia Lauer, M. Durand, Fanny Stutzmann, Y. Perdomo-Trujillo, Claire Redin, V. Bennouna Greene, Annick Toutain, Laurence Perrin, Marion Gérard, Sophie Caillard, Xiaoshu Bei, Richard A. Lewis, D Christmann, J. Letsch, M. Kribs, Catherine Schmidt‐Mutter, Jean Muller, Corinne Stoetzel, Michel Fischbach, Vincent Marion, Nicholas Katsanis, Hélène Dollfus
Publicerad 2010Artigo -
2
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients av David Baux, Christel Vaché, Christophe Blanchet, Marjolaine Willems, C. Baudoin, Mélodie Moclyn, Valérie Faugère, Renaud Touraine, Bertrand Isidor, Delphine Dupin‐Deguine, Mathilde Nizon, Marie Vincent, Sandra Mercier, C. Calais, Gema García‐García, Zohor A. Azher, Linda M. Lambert, Y. Perdomo-Trujillo, Fabienne Giuliano, Mireille Claustres, M. Kœnig, Michel Mondain, Anne‐Françoise Roux
Publicerad 2017Artigo
Sökverktyg:
Relaterade ämnen
Biology
Gene
Genetic heterogeneity
Genetics
Medicine
Phenotype
Audiology
Bardet–Biedl syndrome
Bioinformatics
Ciliogenesis
Ciliopathies
Ciliopathy
Cilium
Cohort
Genotype
Haplotype
Hearing loss
In silico
Internal medicine
Joubert syndrome
Locus (genetics)
Medical genetics
Missense mutation
Molecular diagnostics
Nephronophthisis
Polydactyly