Detalhe da pesquisa
1.
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Genet Med;
24(6): 1316-1327, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35311657
2.
Circadian rhythm and circulating cell-free DNA release on healthy subjects.
Sci Rep;
13(1): 21675, 2023 12 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38065990
3.
Characterization of Plasma Cell-Free DNA Integrity Using Droplet-Based Digital PCR: Toward the Development of Circulating Tumor DNA-Dedicated Assays.
Front Oncol;
11: 639675, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34094923
4.
Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype.
Blood;
112(13): 5238-40, 2008 Dec 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18809761
5.
Germline Mosaicism in STAT3: A Pitfall for Genetic Diagnosis, Counseling, and Therapy of Hyper-IgE Syndrome.
Dermatitis;
34(6): 561-563, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36917542
6.
Synthesis and preliminary biological evaluations of ionic and nonionic amphiphilic alpha-phenyl-N-tert-butylnitrone derivatives.
J Med Chem;
46(24): 5230-7, 2003 Nov 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-14613325
7.
Coenzyme Q10 depletion is comparatively less detrimental to human cultured skin fibroblasts than respiratory chain complex deficiencies.
Free Radic Res;
36(4): 375-9, 2002 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12069100
8.
Respiratory chain deficiency presenting as congenital nephrotic syndrome.
Pediatr Nephrol;
20(4): 465-9, 2005 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15682315
9.
Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits.
Mol Genet Metab;
77(1-2): 21-30, 2002.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12359126