Detalhe da pesquisa
1.
Utility of genetic testing for prenatal presentations of hypophosphatasia.
Mol Genet Metab
; 132(3): 198-203, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33549410
2.
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
Mol Genet Metab
; 116(3): 215-20, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26432670
3.
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.
Eur J Hum Genet
; 29(2): 289-299, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32973344
4.
Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.
PLoS One
; 9(5): e96387, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24804794