Detalhe da pesquisa
1.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 319-330, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639322
2.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 106(1): 137, 2020 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879022
3.
Genomic profiling of a metastatic anaplastic melanocytic neuroectodermal tumor arising from a mature thymic teratoma as part of a mediastinal germ cell tumor.
Cold Spring Harb Mol Case Stud
; 9(2)2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37160315
4.
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
J Clin Invest
; 127(11): 4090-4103, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28972538