Detalhe da pesquisa
1.
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Hum Mutat
; 36(3): 357-68, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25545067
2.
New insights on fibrodysplasia ossificans progressiva: discussion of an autoptic case report and brief literature review.
Intractable Rare Dis Res
; 10(2): 136-141, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33996361
3.
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Genes (Basel)
; 10(10)2019 10 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31614862