Detalhe da pesquisa
1.
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.
Brain
; 144(9): 2722-2731, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34581780
2.
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
Am J Med Genet A
; 182(6): 1426-1437, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32275123
3.
Germline Genetic Features of Young Individuals With Colorectal Cancer.
Gastroenterology
; 154(4): 897-905.e1, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29146522
4.
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Am J Med Genet A
; 176(9): 1845-1851, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055086
5.
The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later.
J Genet Couns
; 26(5): 894-901, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28612151
6.
Scutellaria extract and wogonin inhibit tumor-mediated induction of T(reg) cells via inhibition of TGF-ß1 activity.
Cancer Immunol Immunother
; 61(5): 701-11, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22057676
7.
FAK Promotes Osteoblast Progenitor Cell Proliferation and Differentiation by Enhancing Wnt Signaling.
J Bone Miner Res
; 31(12): 2227-2238, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27391080
8.
Suppression of autophagy by FIP200 deletion leads to osteopenia in mice through the inhibition of osteoblast terminal differentiation.
J Bone Miner Res
; 28(11): 2414-30, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23633228