Detalhe da pesquisa
1.
The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families.
Am J Hum Genet
; 110(12): 2029-2041, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38006881
2.
Patient and Provider Experiences and Views on the Use of Telehealth in Genetics Clinics in Response to the COVID-19 Pandemic.
Telemed J E Health
; 30(1): 118-125, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37294555
3.
Remdesivir for 5 or 10 Days in Patients with Severe Covid-19.
N Engl J Med
; 383(19): 1827-1837, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32459919
4.
First Case of 2019 Novel Coronavirus in the United States.
N Engl J Med
; 382(10): 929-936, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004427
5.
Compassionate Use of Remdesivir for Patients with Severe Covid-19.
N Engl J Med
; 382(24): 2327-2336, 2020 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32275812
6.
TRPC6 inhibitor (BI 764198) to reduce risk and severity of ARDS due to COVID-19: a phase II randomised controlled trial.
Thorax
; 78(8): 816-824, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37024277
7.
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Genet Med
; 25(9): 100880, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37158195
8.
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Mol Genet Metab
; 139(2): 107605, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37207470
9.
B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen.
Nat Immunol
; 13(2): 170-80, 2011 Dec 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-22197976
10.
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
Clin Genet
; 104(2): 210-225, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334874
11.
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Am J Med Genet A
; 191(3): 699-710, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36563179
12.
The role and control of arginine levels in arginase 1 deficiency.
J Inherit Metab Dis
; 46(1): 3-14, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36175366
13.
Remdesivir and Mortality in Patients With Coronavirus Disease 2019.
Clin Infect Dis
; 74(10): 1812-1820, 2022 05 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34409431
14.
Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review.
Mol Genet Metab
; 137(1-2): 153-163, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36049366
15.
Characteristics and Factors Associated With Coronavirus Disease 2019 Infection, Hospitalization, and Mortality Across Race and Ethnicity.
Clin Infect Dis
; 73(12): 2193-2204, 2021 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33608710
16.
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency.
Genet Med
; 23(8): 1543-1550, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875845
17.
GenomeDiver: a platform for phenotype-guided medical genomic diagnosis.
Genet Med
; 23(10): 1998-2002, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113009
18.
GUÍA: a digital platform to facilitate result disclosure in genetic counseling.
Genet Med
; 23(5): 942-949, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33531665
19.
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.
Mol Genet Metab
; 132(1): 19-26, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33388234
20.
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.
J Inherit Metab Dis
; 44(4): 847-856, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33325055