Detalhe da pesquisa
1.
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration.
Cell
; 186(6): 1162-1178.e20, 2023 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36931244
2.
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species.
Hum Genet
; 2023 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36867246
3.
Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0.
Hum Genet
; 141(8): 1409-1421, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35072799
4.
A blue light receptor that mediates RNA binding and translational regulation.
Nat Chem Biol
; 15(11): 1085-1092, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31451761
5.
Enantioselective Organocatalytic Synthesis of Bicyclic Resorcinols via an Intramolecular Friedel-Crafts-Type 1,4-Addition: Access to Cannabidiol Analogues.
Adv Synth Catal
; 363(16): 4067-4074, 2021 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34594164
6.
Robotic assisted generation of 2'-deoxy-2'-fluoro-modifed RNA aptamers - High performance enabling strategies in aptamer selection.
Methods
; 161: 3-9, 2019 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31152781
7.
Cupreines and cupreidines: an established class of bifunctional cinchona organocatalysts.
Beilstein J Org Chem
; 12: 429-43, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27340439
8.
Proteomic analysis of Artemisia annua--towards elucidating the biosynthetic pathways of the antimalarial pro-drug artemisinin.
BMC Plant Biol
; 15: 175, 2015 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26156581
9.
Erratum: Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
HGG Adv
; 4(1): 100168, 2023 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36583168
10.
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sci Adv
; 9(10): eade1463, 2023 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36897941
11.
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Sci Adv
; 9(17): eade0631, 2023 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37126546
12.
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
HGG Adv
; 3(3): 100102, 2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35469323
13.
Plasma erythromycin concentrations predict feeding outcomes in critically ill patients with feed intolerance.
Crit Care Med
; 39(4): 868-71, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21297459
14.
Colonoids From Patients With Pediatric Inflammatory Bowel Disease Exhibit Decreased Growth Associated With Inflammation Severity and Durable Upregulation of Antigen Presentation Genes.
Inflamm Bowel Dis
; 27(2): 256-267, 2021 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32556182
15.
Dynamic changes in DNA populations revealed by split-combine selection.
Chem Sci
; 11(35): 9577-9583, 2020 Aug 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34094223
16.
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Sci Adv
; 6(49)2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33268356
17.
Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report.
Br J Ophthalmol
; 103(6): 761-767, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30030392
18.
The impact of delaying enteral feeding on gastric emptying, plasma cholecystokinin, and peptide YY concentrations in critically ill patients.
Crit Care Med
; 36(5): 1469-74, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18434906
19.
Diminished functional association between proximal and distal gastric motility in critically ill patients.
Intensive Care Med
; 34(7): 1246-55, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18297265
20.
The effects of sedation on gastric emptying and intra-gastric meal distribution in critical illness.
Intensive Care Med
; 34(3): 454-60, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18060542