Detalhe da pesquisa
1.
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Am J Hum Genet
; 110(8): 1414-1435, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541189
2.
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Am J Hum Genet
; 110(6): 998-1007, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37207645
3.
Development of Oxadiazolone Activity-Based Probes Targeting FphE for Specific Detection of Staphylococcus aureus Infections.
J Am Chem Soc
; 146(10): 6880-6892, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411555
4.
ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.
Clin Genet
; 105(5): 470-487, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38420660
5.
Likelihood of COVID-19 Outbreaks in US Immigration and Customs Enforcement (ICE) Detention Centers, 2020â2021.
Am J Public Health
; : e1-e4, 2024 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38900981
6.
Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.
Am J Med Genet A
; 191(1): 29-36, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36177608
7.
Efficacy of analgesic and sub-dissociative dose ketamine for acute pain in the emergency department.
Am J Emerg Med
; 70: 133-139, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37290249
8.
Report of two children with global developmental delay in association with de novo TLK2 variant and literature review.
Am J Med Genet A
; 188(3): 931-940, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34821460
9.
Expanding the phenotype of TAB2 variants and literature review.
Am J Med Genet A
; 188(11): 3331-3342, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35971781
10.
Comparison of Antibody Class-Specific SARS-CoV-2 Serologies for the Diagnosis of Acute COVID-19.
J Clin Microbiol
; 59(4)2021 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33468605
11.
The C. difficile clnRAB operon initiates adaptations to the host environment in response to LL-37.
PLoS Pathog
; 14(8): e1007153, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30125334
12.
Palliative care in the emergency department: A survey assessment of patient and provider perspectives.
Palliat Med
; 34(9): 1279-1285, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32666881
13.
Regulation and Anaerobic Function of the Clostridioides difficile ß-Lactamase.
Antimicrob Agents Chemother
; 64(1)2019 12 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31611350
14.
Ethanolamine is a valuable nutrient source that impacts Clostridium difficile pathogenesis.
Environ Microbiol
; 20(4): 1419-1435, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29349925
15.
Examination of the Clostridioides (Clostridium) difficile VanZ ortholog, CD1240.
Anaerobe
; 53: 108-115, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29940245
16.
The Clostridium difficile Dlt Pathway Is Controlled by the Extracytoplasmic Function Sigma Factor σV in Response to Lysozyme.
Infect Immun
; 84(6): 1902-1916, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27068095
17.
The Phosphotransfer Protein CD1492 Represses Sporulation Initiation in Clostridium difficile.
Infect Immun
; 84(12): 3434-3444, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27647869
18.
An alkaline phosphatase reporter for use in Clostridium difficile.
Anaerobe
; 32: 98-104, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25576237
19.
Polymer-tethered quenched fluorescent probes for enhanced imaging of tumor associated proteases.
bioRxiv
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38766164
20.
System Life Cycle Evaluation(SM) (SLiCE): harmonizing water treatment systems with implementers' needs.
J Water Health
; 11(2): 199-209, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23708569