Detalhe da pesquisa
1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586412
2.
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Clin Genet
; 105(3): 294-301, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044714
3.
Adolescent and Young Adult (AYA) Oncology, Version 2.2024, NCCN Clinical Practice Guidelines in Oncology.
J Natl Compr Canc Netw
; 21(8): 851-880, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37549914
4.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Genet Med
; 23(7): 1234-1245, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824499
5.
DNA Content Variation and SNP Diversity Within a Single Population of Asexual Snails.
J Hered
; 112(1): 58-66, 2021 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33245337
6.
Direct cell-cell contact activates SigM to express the ESX-4 secretion system in Mycobacterium smegmatis.
Proc Natl Acad Sci U S A
; 115(28): E6595-E6603, 2018 07 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29941598
7.
Biocatalytic N-Alkylation of Amines Using Either Primary Alcohols or Carboxylic Acids via Reductive Aminase Cascades.
J Am Chem Soc
; 141(3): 1201-1206, 2019 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30601002
8.
One-Pot Biocatalytic Cascade Reduction of Cyclic Enimines for the Preparation of Diastereomerically Enriched N-Heterocycles.
J Am Chem Soc
; 141(49): 19208-19213, 2019 12 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31743008
9.
Nicotine and alcohol: the role of midbrain dopaminergic neurons in drug reinforcement.
Eur J Neurosci
; 50(3): 2180-2200, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30251377
10.
Chemoenzymatic Synthesis of Substituted Azepanes by Sequential Biocatalytic Reduction and Organolithium-Mediated Rearrangement.
J Am Chem Soc
; 140(51): 17872-17877, 2018 12 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30521324
11.
Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review.
Am J Med Genet B Neuropsychiatr Genet
; 177(4): 426-433, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29704315
12.
A biocatalytic cascade for the amination of unfunctionalised cycloalkanes.
Org Biomol Chem
; 15(46): 9790-9793, 2017 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29147696
13.
Direct Alkylation of Amines with Primary and Secondary Alcohols through Biocatalytic Hydrogen Borrowing.
Angew Chem Int Ed Engl
; 56(35): 10491-10494, 2017 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28671344
14.
Lessons Learned From Interdisciplinary Efforts to Combat COVID-19 Misinformation: Development of Agile Integrative Methods From Behavioral Science, Data Science, and Implementation Science.
JMIR Infodemiology
; 3: e40156, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37113378
15.
Mesolimbic Neural Response Dynamics Predict Future Individual Alcohol Drinking in Mice.
Biol Psychiatry
; 2023 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38061466
16.
An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism.
bioRxiv
; 2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168314
17.
Double life: How GRK2 and ß-arrestin signaling participate in diseases.
Cell Signal
; 94: 110333, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35430346
18.
Strengthening the primary care workforce to deliver high-quality care for non-communicable diseases in refugee settings: lessons learnt from a UNHCR partnership.
BMJ Glob Health
; 7(Suppl 5)2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35798443
19.
Midbrain projection to the basolateral amygdala encodes anxiety-like but not depression-like behaviors.
Nat Commun
; 13(1): 1532, 2022 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35318315
20.
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
Neurology
; 98(20): e2046-e2059, 2022 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35314505