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1.
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test.
Genet Med
; 26(1): 100995, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-37838930
2.
Multidisciplinary recommendations for essential baseline functional and laboratory tests to facilitate early diagnosis and management of immune-related adverse events among cancer patients.
Cancer Immunol Immunother
; 72(7): 1991-2001, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37017694
3.
Injection Drug Use and Sexual Risk Behaviors Among People who Inject Drugs in Ukraine: A Random-Intercept Latent Transition Analysis.
AIDS Behav
; 27(9): 3012-3026, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-36929321
4.
Effects of a social network intervention on HIV seroconversion among people who inject drugs in Ukraine: moderation by network gender composition.
Harm Reduct J
; 20(1): 165, 2023 11 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37940947
5.
Vales+Tú: a cluster-randomized pilot study to reduce workplace injuries among US Latino day laborers.
Health Promot Int
; 37(6)2022 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36367426
6.
Economic and financial crisis based on Troika's intervention and potentially avoidable hospitalizations: an ecological study in Portugal.
BMC Health Serv Res
; 21(1): 506, 2021 May 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-34039326
7.
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.
Am J Med Genet A
; 182(8): 1906-1912, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32573057
8.
Correction to: Multidisciplinary recommendations for essential baseline functional and laboratory tests to facilitate early diagnosis and management of immunerelated adverse events among cancer patients.
Cancer Immunol Immunother
; 72(7): 2003-2004, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37154850
9.
SLC6A1 variants identified in epilepsy patients reduce γ-aminobutyric acid transport.
Epilepsia
; 59(9): e135-e141, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30132828
10.
Regulating whole exome sequencing as a diagnostic test.
Hum Genet
; 135(6): 655-73, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-27167135
11.
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.
Ann Neurol
; 77(2): 206-14, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25380242
12.
The potential clinical value of contrast-enhanced echocardiography beyond current recommendations.
Cardiovasc Ultrasound
; 14: 2, 2016 Jan 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-26729298
13.
Stress Analysis of Axial and Tilted Implants in Full-arch Fixed Dentures Under Different Abutment Conditions.
J Craniofac Surg
; 27(3): e249-52, 2016 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-26999691
14.
Awareness of the impact of sex and gender in the disease risk and outcomes in hematology and medical oncology-a survey of Swiss clinicians.
Cancer Rep (Hoboken)
; 7(2): e1961, 2024 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38258483
15.
Paint booth waste as an alternative aggregate for the production of interlocking concrete blocks.
Sci Rep
; 14(1): 3180, 2024 Feb 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-38326508
16.
Performance of castor oil polyurethane resin in composite with the piassava fibers residue from the Amazon.
Sci Rep
; 14(1): 6679, 2024 Mar 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-38509122
17.
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent.
J Mol Diagn
; 26(6): 510-519, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38582400
18.
Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.
Hum Mutat
; 34(9): 1183-8, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23757202
19.
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.
Mol Genet Metab
; 110(1-2): 78-85, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23806237
20.
Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations.
BMC Genet
; 14: 6, 2013 Feb 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-23418865