Detalhe da pesquisa
1.
Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases.
Am J Hum Genet
; 106(5): 632-645, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32330418
2.
Lipase-catalysed changes in essential oils revealed by comprehensive two-dimensional gas chromatography.
Anal Bioanal Chem
; 415(16): 3189-3199, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37184634
3.
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Genet Med
; 24(7): 1583-1591, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35499524
4.
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Genet Med
; 24(4): 851-861, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930662
5.
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.
Genet Med
; 23(3): 534-542, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33110267
6.
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Hum Mol Genet
; 27(14): 2454-2465, 2018 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29726930
7.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet
; 98(6): 1067-1076, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27181684
8.
SYT1-associated neurodevelopmental disorder: a case series.
Brain
; 141(9): 2576-2591, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30107533
9.
The Blossoming of Technology for the Analysis of Complex Aroma Bouquets-A Review on Flavour and Odorant Multidimensional and Comprehensive Gas Chromatography Applications.
Molecules
; 24(11)2019 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31159223
10.
Foods and Contaminants Analysis Using Multidimensional Gas Chromatography: An Update of Recent Studies, Technology, and Applications.
Anal Chem
; 95(1): 238-263, 2023 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36625115
11.
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Genet Med
; 20(12): 1635-1643, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29790872
12.
Ionic liquid capillary columns for analysis of multi-component volatiles by gas chromatography-mass spectrometry: performance, selectivity, activity and retention indices.
Anal Bioanal Chem
; 410(19): 4615-4632, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29127462
13.
Using the Uganda National Panel Survey to analyze the effect of staple food consumption on undernourishment in Ugandan children.
BMC Public Health
; 18(1): 32, 2017 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28724425
14.
Comprehensive Two-Dimensional Gas Chromatography Advances in Technology and Applications: Biennial Update.
Anal Chem
; 92(1): 85-104, 2020 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31850741
15.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet
; 99(1): 247, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392081
16.
Comprehensive Two-Dimensional Gas Chromatography-Mass Spectrometry as a Tool for the Untargeted Study of Hop and Their Metabolites.
Metabolites
; 14(4)2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38668365
17.
Hyperforin modulates dendritic spine morphology in hippocampal pyramidal neurons by activating Ca(2+) -permeable TRPC6 channels.
Hippocampus
; 23(1): 40-52, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22815087
18.
The use of coarsened exact matching to evaluate treatment mode in the rib fracture patient.
J Surg Res
; 223: 259-260, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198604
19.
Contributions of rare and common variation to early-onset and atypical dementia risk.
medRxiv
; 2023 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36798301
20.
Contributions of rare and common variation to early-onset and atypical dementia risk.
Cold Spring Harb Mol Case Stud
; 9(3)2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37308299