Detalhe da pesquisa
1.
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.
Hum Genet
; 2024 May 14.
Artigo
Inglês
| MEDLINE | ID: mdl-38743093
2.
Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes.
Hum Mutat
; 41(5): 1025-1032, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32048431
3.
HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.
Mol Cell Probes
; 44: 14-20, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30682426
4.
Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling.
Cardiovasc Diagn Ther
; 11(2): 637-649, 2021 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-33968641
5.
HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.
BMC Med Genomics
; 14(1): 94, 2021 03 31.
Artigo
Inglês
| MEDLINE | ID: mdl-33789662
6.
Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.
Neuromuscul Disord
; 31(2): 123-133, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33414056
7.
Human endogenous retroviral long terminal repeat sequences as cell type-specific promoters in retroviral vectors.
J Virol
; 83(23): 12643-50, 2009 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-19741000
8.
Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.
Mol Genet Genomic Med
; 6(6): 1188-1198, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30406974
9.
The potential of retroviral vectors to cotransfer human endogenous retroviruses (HERVs) from human packaging cell lines.
Gene
; 390(1-2): 175-9, 2007 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-17045761
10.
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.
Neuromolecular Med
; 18(1): 81-90, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26573920
11.
Low volume amplification and sequencing of mitochondrial DNA on a chemically structured chip.
Int J Legal Med
; 121(1): 68-73, 2007 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-17093971
12.
Low-volume amplification on chemically structured chips using the PowerPlex16 DNA amplification kit.
Int J Legal Med
; 120(1): 42-8, 2006 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-16231187