Detalhe da pesquisa
1.
ARF1-related disorder: phenotypic and molecular spectrum.
J Med Genet
; 60(10): 999-1005, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185208
2.
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
Hum Mutat
; 43(12): 1844-1851, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904126
3.
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Hum Mutat
; 39(11): 1641-1649, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311378
4.
Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms.
Blood
; 123(4): 562-9, 2014 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-24184683
5.
Mechanisms and clinical applications of chromosomal instability in lymphoid malignancy.
Br J Haematol
; 171(1): 13-28, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26018193
6.
Contribution of impaired myocardial insulin signaling to mitochondrial dysfunction and oxidative stress in the heart.
Circulation
; 119(9): 1272-83, 2009 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-19237663
7.
Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay.
Cold Spring Harb Mol Case Stud
; 6(6)2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33154040
8.
ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.
Hematol Oncol Clin North Am
; 27(1): 19-41, vii, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23351986
9.
UCP3 regulates cardiac efficiency and mitochondrial coupling in high fat-fed mice but not in leptin-deficient mice.
Diabetes
; 61(12): 3260-9, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22912419