Pediatría
Departamento
University College Dublin
Dublín, IrlandaPublicaciones en colaboración con investigadoras/es de University College Dublin (2)
2021
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Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692
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