Neurociencias - GIC 21/019
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Broad Institute
Cambridge, Estados UnidosPublicaciones en colaboración con investigadoras/es de Broad Institute (2)
2020
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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Genetics in Medicine, Vol. 22, Núm. 9, pp. 1478-1488
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