María Jesús
Sobrido Gómez
University of Groningen
Groninga, HolandaPublicacións en colaboración con investigadores/as de University of Groningen (4)
2019
-
Recommendations for patient screening in ultra-rare inherited metabolic diseases: What have we learned from Niemann-Pick disease type C?
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
2015
2009
-
Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project
Genetics in Medicine
-
Planning the human variome project: The Spain report
Human Mutation, Vol. 30, Núm. 4, pp. 496-510