Detalhe da pesquisa
1.
Lysine-Derived Charge-Altering Releasable Transporters: Targeted Delivery of mRNA and siRNA to the Lungs.
Bioconjug Chem
; 2023 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36996808
2.
Oligo(serine ester) Charge-Altering Releasable Transporters: Organocatalytic Ring-Opening Polymerization and their Use for in Vitro and in Vivo mRNA Delivery.
J Am Chem Soc
; 141(21): 8416-8421, 2019 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31083999
3.
Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities.
Am J Med Genet A
; 179(5): 870-874, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30941876
4.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Am J Med Genet A
; 176(4): 925-935, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29436146
5.
Pre-natal clues of a genetic tale: how foetal heart rate foretells long QT syndrome.
Europace
; 25(11)2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37882612
6.
Customizable Lipid Nanoparticle Materials for the Delivery of siRNAs and mRNAs.
Angew Chem Int Ed Engl
; 57(41): 13582-13586, 2018 10 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30112821
7.
New targets for monitoring and therapy in Barth syndrome.
Genet Med
; 18(10): 1001-10, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26845103
8.
Clinical whole exome sequencing in child neurology practice.
Ann Neurol
; 76(4): 473-83, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25131622
9.
Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.
Am J Med Genet A
; 167A(5): 1147-51, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25851414
10.
Clinical laboratory studies in Barth Syndrome.
Mol Genet Metab
; 112(2): 143-7, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24751896
11.
Unraveling Complexities in Genetically Elusive Long QT Syndrome.
Circ Arrhythm Electrophysiol
; 17(2): e012356, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38264885
12.
C-reactive Protein Elevation Is Associated With QTc Interval Prolongation in Patients Hospitalized With COVID-19.
Front Cardiovasc Med
; 9: 866146, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35811700
13.
Acquired Long QT and Ventricular Arrhythmias in the Setting of Acute Inflammation: A Case Series.
JACC Case Rep
; 3(8): 1103-1107, 2021 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34471893
14.
Anxiety and depression in inherited channelopathy patients with implantable cardioverter-defibrillators.
Heart Rhythm O2
; 2(4): 388-393, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34430944
15.
Incorporation of genetic testing significantly increases the number of individuals diagnosed with familial hypercholesterolemia.
J Clin Lipidol
; 14(3): 331-338, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32220565
16.
Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome.
Orphanet J Rare Dis
; 14(1): 37, 2019 01 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-30744648
17.
Ubiquity of polystyrene digestion and biodegradation within yellow mealworms, larvae of Tenebrio molitor Linnaeus (Coleoptera: Tenebrionidae).
Chemosphere
; 212: 262-271, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30145418
18.
Synthesis and Biological Evaluation of Ionizable Lipid Materials for the In Vivo Delivery of Messenger RNA to B Lymphocytes.
Adv Mater
; 29(33)2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28681930
19.
DNM1 encephalopathy: A new disease of vesicle fission.
Neurology
; 89(4): 385-394, 2017 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28667181
20.
Bioinspired Alkenyl Amino Alcohol Ionizable Lipid Materials for Highly Potent In Vivo mRNA Delivery.
Adv Mater
; 28(15): 2939-43, 2016 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-26889757