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.
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
3.
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature.
Am J Med Genet A
; 188(5): 1497-1514, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35138025
4.
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
5.
Intrapartum Antibiotic Exposure and Body Mass Index in Children.
Clin Infect Dis
; 73(4): e938-e946, 2021 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33493270
6.
Invasive Group A Streptococcal Infections Among People Who Inject Drugs and People Experiencing Homelessness in the United States, 2010-2017.
Clin Infect Dis
; 73(11): e3718-e3726, 2021 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32803254
7.
Impact of 13-Valent Pneumococcal Conjugate Vaccine on Meningitis and Pneumonia Hospitalizations in Children aged <5 Years in Senegal, 2010-2016.
Clin Infect Dis
; 69(Suppl 2): S66-S71, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31505625
8.
HIV Infection Linked to Injection Use of Oxymorphone in Indiana, 2014-2015.
N Engl J Med
; 375(3): 229-39, 2016 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27468059
9.
HIV Infection and HIV-Associated Behaviors Among Persons Who Inject Drugs - 20 Cities, United States, 2015.
MMWR Morb Mortal Wkly Rep
; 67(1): 23-28, 2018 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29324726
10.
Detailed Transmission Network Analysis of a Large Opiate-Driven Outbreak of HIV Infection in the United States.
J Infect Dis
; 216(9): 1053-1062, 2017 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29029156
11.
Factors Associated With Recent Human Immunodeficiency Virus Testing Among Men Who Have Sex With Men in Puerto Rico, National Human Immunodeficiency Virus Behavioral Surveillance System, 2011.
Sex Transm Dis
; 43(6): 346-52, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27200518
12.
HIV infection and HIV-associated behaviors among persons who inject drugs--20 cities, United States, 2012.
MMWR Morb Mortal Wkly Rep
; 64(10): 270-5, 2015 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25789742
13.
The disease-associated mutation of the mitochondrial thiol oxidase Erv1 impairs cofactor binding during its catalytic reaction.
Biochem J
; 464(3): 449-59, 2014 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25269795
14.
Prevalence of HIV infection and risk behaviors among younger and older injecting drug users in the United States, 2009.
AIDS Behav
; 18 Suppl 3: 284-96, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24242754
15.
Identification and characterization of mitochondrial Mia40 as an iron-sulfur protein.
Biochem J
; 455(1): 27-35, 2013 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23834247
16.
Folding and biogenesis of mitochondrial small Tim proteins.
Int J Mol Sci
; 14(8): 16685-705, 2013 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-23945562
17.
Association of Pneumococcal Conjugate Vaccine Use With Hospitalized Pneumonia in Medicare Beneficiaries 65 Years or Older With and Without Medical Conditions, 2014 to 2017.
JAMA Intern Med
; 183(1): 40-47, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36469350
18.
Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review.
Neuromuscul Disord
; 33(1): 50-57, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36522252
19.
Preferential targeting of a signal recognition particle-dependent precursor to the Ssh1p translocon in yeast.
J Biol Chem
; 286(25): 21953-60, 2011 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-21454595
20.
Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review.
Eur J Med Genet
; 65(4): 104470, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35240322