Detalhe da pesquisa
1.
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Genet Med
; 21(1): 233-242, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907798
2.
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".
Genet Med
; 21(1): 262-265, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30097611
3.
Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders.
Orphanet J Rare Dis
; 12(1): 132, 2017 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28724394