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.
Genetic analysis of adults heterozygous for ALPL mutations.
J Bone Miner Metab
; 36(6): 723-733, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29236161
3.
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
4.
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