Detalhe da pesquisa
1.
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Clin Genet
; 105(3): 294-301, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044714
2.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Genet Med
; 24(10): 2065-2078, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35980381
3.
7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder.
Am J Med Genet A
; 182(11): 2737-2741, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32885567
4.
Acquired mutations in BCL2 family proteins conferring resistance to the BH3 mimetic ABT-199 in lymphoma.
Blood
; 123(26): 4111-9, 2014 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24786774
5.
Borrelia burgdorferi sensu stricto and Borrelia afzelii: Population structure and differential pathogenicity.
Int J Med Microbiol
; 305(7): 673-81, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26341331
6.
A cyclin-D1 interaction with BAX underlies its oncogenic role and potential as a therapeutic target in mantle cell lymphoma.
Proc Natl Acad Sci U S A
; 108(30): 12461-6, 2011 Jul 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-21746927
7.
Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.
Eur J Med Genet
; 66(1): 104669, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36379434
8.
SRD5A3-CDG: Twins with an intragenic tandem duplication.
Eur J Med Genet
; 65(5): 104492, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35339718
9.
Long-term in vitro cultivation of Borrelia miyamotoi.
Ticks Tick Borne Dis
; 6(2): 181-4, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25561082