Detalhe da pesquisa
1.
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Am J Med Genet A
; 185(12): 3740-3753, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34331327
2.
A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.
BMC Neurol
; 21(1): 358, 2021 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34530748
3.
Folic acid supplementation in pregnancy and implications in health and disease.
J Biomed Sci
; 21: 77, 2014 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25135350
4.
Quality metrics for enhanced performance of an NGS panel using single-vial amplification technology.
J Clin Pathol
; 77(1): 46-53, 2023 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36376073
5.
Expanding the phenotype of ATP6AP1 deficiency.
Cold Spring Harb Mol Case Stud
; 8(4)2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35732497
6.
3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities.
Mol Cytogenet
; 15(1): 7, 2022 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35241116
7.
A treatment-refractory aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report.
Mol Cytogenet
; 15(1): 51, 2022 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36474285
8.
Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.
Sci Rep
; 12(1): 9358, 2022 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35672425
9.
Key considerations for comprehensive validation of an RNA fusion NGS panel.
Pract Lab Med
; 21: e00173, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32613069
10.
Targeting SLMAP-ALK-a novel gene fusion in lung adenocarcinoma.
Cold Spring Harb Mol Case Stud
; 5(3)2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160357
11.
High Gestational Folic Acid Supplementation Alters Expression of Imprinted and Candidate Autism Susceptibility Genes in a sex-Specific Manner in Mouse Offspring.
J Mol Neurosci
; 58(2): 277-86, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26547318
12.
DNA Methylation Profiling at Single-Base Resolution Reveals Gestational Folic Acid Supplementation Influences the Epigenome of Mouse Offspring Cerebellum.
Front Neurosci
; 10: 168, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27199632
13.
Molecular Basis for Strain Variation in the Saccharomyces cerevisiae Adhesin Flo11p.
mSphere
; 1(4)2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27547826
14.
Lifestyle, pregnancy and epigenetic effects.
Epigenomics
; 7(1): 85-102, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25687469
15.
Microarray analysis reveals higher gestational folic Acid alters expression of genes in the cerebellum of mice offspring-a pilot study.
Brain Sci
; 5(1): 14-31, 2015 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-25629700
16.
Single-base resolution of mouse offspring brain methylome reveals epigenome modifications caused by gestational folic acid.
Epigenetics Chromatin
; 7(1): 3, 2014 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24484737
17.
Increasing maternal or post-weaning folic acid alters gene expression and moderately changes behavior in the offspring.
PLoS One
; 9(7): e101674, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25006883