MARIA ITXASO
MARTI CARRERA
PROFESORADO ASOCIADO
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Necker-Enfants Malades Hospital
París, FranciaPublicaciones en colaboración con investigadoras/es de Necker-Enfants Malades Hospital (4)
2013
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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders
European Journal of Human Genetics, Vol. 21, Núm. 10, pp. 1074-1078
2010
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Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
Human Mutation, Vol. 31, Núm. 5
2009
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Expanding CEP290 mutational spectrumin ciliopathies
American Journal of Medical Genetics, Part A, Vol. 149, Núm. 10, pp. 2173-2180
2007
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CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
American Journal of Human Genetics, Vol. 81, Núm. 1, pp. 104-113