Detalhe da pesquisa
1.
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Hum Genet
; 137(11-12): 921-939, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30450527
2.
Defining the right diluent for intravenous infusion of therapeutic antibodies.
MAbs
; 12(1): 1685814, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31774346
3.
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.
Cold Spring Harb Mol Case Stud
; 1(1): a000257, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27148561