VERÓNICA
PULIDO SANZ
Predoctoral
P.
Lapunzina
Publicaciones en las que colabora con P. Lapunzina (3)
2013
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Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations
American Journal of Medical Genetics, Part A, Vol. 161, Núm. 6, pp. 1354-1369
2012
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Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
Human Mutation, Vol. 33, Núm. 2, pp. 343-350
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Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum
Human Mutation, Vol. 33, Núm. 10, pp. 1444-1449