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1.
"Like not having an arm": a qualitative study of the impact of visitor restrictions on cancer care during the COVID-19 pandemic.
Support Care Cancer;
32(5): 288, 2024 Apr 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38622350
2.
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.
J Pediatr;
261: 113537, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37271495
3.
Rare Disease, Advocacy and Justice: Intersecting Disparities in Research and Clinical Care.
Am J Bioeth;
23(7): 17-26, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37204146
4.
Latinx attitudes, barriers, and experiences with genetic counseling and testing: A systematic review.
J Genet Couns;
32(1): 166-181, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36301246
5.
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.
Am J Med Genet A;
188(4): 1088-1101, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34981646
6.
Perspectives of Rare Disease Social Media Group Participants on Engaging With Genetic Counselors: Mixed Methods Study.
J Med Internet Res;
24(12): e42084, 2022 12 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-36542454
7.
Genetic counseling and testing for Asian Americans: a systematic review.
Genet Med;
23(8): 1424-1437, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33972720
8.
"It seems like COVID-19 now is the only disease present on Earth": living with a rare or undiagnosed disease during the COVID-19 pandemic.
Genet Med;
23(5): 837-844, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33420343
9.
Opportunities and pitfalls of social media research in rare genetic diseases: a systematic review.
Genet Med;
23(12): 2250-2259, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34282302
10.
"Doctors can read about it, they can know about it, but they've never lived with it": How parents use social media throughout the diagnostic odyssey.
J Genet Couns;
30(6): 1707-1718, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34096130
11.
Ventilator Triage Policies During the COVID-19 Pandemic at U.S. Hospitals Associated With Members of the Association of Bioethics Program Directors.
Ann Intern Med;
173(3): 188-194, 2020 08 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-32330224
12.
Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study.
Genet Med;
22(11): 1830-1837, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32601388
13.
Assessing genetic counselors' experiences with physician aid-in-dying and practice implications.
J Genet Couns;
28(1): 164-173, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30688387
14.
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Am J Hum Genet;
96(3): 462-73, 2015 Mar 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-25683120
15.
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Am J Hum Genet;
97(2): 199-215, 2015 Aug 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26166479
16.
Pathways from autism spectrum disorder diagnosis to genetic testing.
Genet Med;
20(7): 737-744, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29048417
17.
Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.
PLoS Genet;
11(6): e1005273, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-26047157
18.
Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing.
Am J Hum Genet;
95(1): 77-84, 2014 Jul 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-24975944
19.
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
Am J Hum Genet;
95(2): 183-93, 2014 Aug 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-25087612
20.
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
Am J Hum Genet;
94(5): 734-44, 2014 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-24726473