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1.
HER2 amplification by next-generation sequencing to identify HER2-positive invasive breast cancer with negative HER2 immunohistochemistry.
Cancer Cell Int
; 22(1): 350, 2022 Nov 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-36376842
2.
Evaluating the experiences of individuals with personal health risks identified through expanded carrier screening.
J Genet Couns
; 31(3): 598-607, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-34695254
3.
CRISPR/Cas9-Engineered HLA-Deleted Glomerular Endothelial Cells as a Tool to Predict Pathogenic Non-HLA Antibodies in Kidney Transplant Recipients.
J Am Soc Nephrol
; 32(12): 3231-3251, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35167486
4.
Analysis of the reported use of practice-based competencies by North American genetic counselors during the COVID-19 pandemic.
J Genet Couns
; 30(5): 1257-1268, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34523197
5.
Telehealth for genetic counseling: A systematic evidence review.
J Genet Couns
; 30(5): 1361-1378, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34355839
6.
Patients' reactions and follow-up testing decisions related to Tay-Sachs (HEXA) variants of uncertain significance results.
J Genet Couns
; 28(4): 738-749, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30843643
7.
Detection of an atypical BCR::ABL1 fusion in a patient with secondary B-cell acute lymphoblastic leukemia/lymphoma following multiple myeloma treatment.
Cancer Genet
; 274-275: 30-32, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36966724
8.
Complex/cryptic EWSR1::FLI1/ERG Gene Fusions and 1q Jumping Translocation in Pediatric Ewing Sarcomas.
Genes (Basel)
; 14(6)2023 05 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-37372318
9.
Evaluating the Effectiveness of a Telehealth Cancer Genetics Program: A BRCA Pilot Study.
Public Health Genomics
; : 1-14, 2022 Aug 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35944511
10.
Utility of targeted next-generation sequencing assay to detect 1p/19q co-deletion in formalin-fixed paraffin-embedded glioma specimens.
Hum Pathol
; 126: 63-76, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35561840
11.
Attitudes and interest in incorporating BRCA1/2 cancer susceptibility testing into reproductive carrier screening for Ashkenazi Jewish men and women.
J Community Genet
; 13(3): 281-292, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-35486291
12.
Concomitance of a novel RMDN2-ALK fusion and an EML4-ALK fusion in a lung adenocarcinoma.
Cancer Genet
; 258-259: 18-22, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34233240
13.
Diagnostic Utility of Gene Fusion Panel to Detect Gene Fusions in Fresh and Formalin-Fixed, Paraffin-Embedded Cancer Specimens.
J Mol Diagn
; 23(10): 1343-1358, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34358677
14.
Clinical Utility of Targeted Next-Generation Sequencing Assay to Detect Copy Number Variants Associated with Myelodysplastic Syndrome in Myeloid Malignancies.
J Mol Diagn
; 23(4): 467-483, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33577993
15.
Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.
Mol Genet Genomic Med
; 7(8): e836, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31293106
16.
Implementation of a Carrier Screening Program in a High-Risk Undergraduate Student Population Using Digital Marketing, Online Education, and Telehealth.
Public Health Genomics
; 21(1-2): 67-76, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30408784
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