MARÍA LUISA
MARTÍNEZ FRÍAS
Researcher in the period 2008-2013
Hospital Universitario La Paz
Madrid, EspañaPublications in collaboration with researchers from Hospital Universitario La Paz (4)
2021
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Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome
Frontiers in Genetics, Vol. 12
2014
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A new overgrowth syndrome is due to mutations in RNF125
Human Mutation, Vol. 35, Núm. 12, pp. 1436-1441
2011
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Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype
American Journal of Human Genetics, Vol. 89, Núm. 2, pp. 295-301
2009
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Widening the mutation spectrum of EVC and EVC2: Ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling
Human Mutation, Vol. 30, Núm. 12, pp. 1667-1675