Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

1,049 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Marsili L, van Lint FHM, Russo F, van Spaendonck-Zwarts KY, Ader F, Bichon ML, Faivre L, Houweling AC, Isidor B, Lekanne Deprez RH, Cox MGPJ, Wilde AAM, Mazel B, Mercier S, Dooijes D, Millat G, Nguyen K, Post JG, Richard P, van de Beek I, Vermeer AMC, Boven L, Jongbloed JDH, van Tintelen JP; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart. Marsili L, et al. Among authors: richard p. Neth Heart J. 2023 Aug;31(7-8):300-307. doi: 10.1007/s12471-023-01798-9. Epub 2023 Jul 24. Neth Heart J. 2023. PMID: 37488328 Free PMC article.
[Interpretation of results from high-throughput sequencing for genetic diseases: implementation of national homogenization in France].
Gorokhova S, Rouzier C, Acquaviva-Bourdain C, Baert-Desurmont S, Caputo S, Chatron N, Coulet F, Doco-Fenzy M, Keren B, Le Marechal C, Nicolas G, Procaccio V, Richard P, Romanet P, Snanoudj S, Muller J, Krahn M, Saugier-Veber P. Gorokhova S, et al. Among authors: richard p. Med Sci (Paris). 2024 Oct;40(10):767-769. doi: 10.1051/medsci/2024104. Epub 2024 Oct 25. Med Sci (Paris). 2024. PMID: 39450962 French. No abstract available.
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Yauy K, Lecoquierre F, Baert-Desurmont S, Trost D, Boughalem A, Luscan A, Costa JM, Geromel V, Raymond L, Richard P, Coutant S, Broutin M, Lanos R, Fort Q, Cackowski S, Testard Q, Diallo A, Soirat N, Holder JM, Duforet-Frebourg N, Bouge AL, Beaumeunier S, Bertrand D, Audoux J, Genevieve D, Mesnard L, Nicolas G, Thevenon J, Philippe N. Yauy K, et al. Among authors: richard p. Genet Med. 2022 Jun;24(6):1316-1327. doi: 10.1016/j.gim.2022.02.008. Epub 2022 Mar 17. Genet Med. 2022. PMID: 35311657 Free article.
Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes.
Stojkovic T, Masingue M, Turmel H, Hezode-Arzel M, Béhin A, Leonard-Louis S, Bassez G, Bauché S, Blondy P, Richard P, Sternberg D, Eymard B, Fournier E, Villar-Quiles RN. Stojkovic T, et al. Among authors: richard p. Neuromuscul Disord. 2022 Dec;32(11-12):870-878. doi: 10.1016/j.nmd.2022.10.001. Epub 2022 Oct 9. Neuromuscul Disord. 2022. PMID: 36522822
Validation of Prognostic Models for Renal Cell Carcinoma Recurrence, Cancer-Specific Mortality, and All-Cause Mortality.
Robert A, Mallick R, McIsaac DI, Lavallée LT, Bhindi B, Heng D, Wood LA, Rendon R, Tanguay S, Finelli A, Bansal RK, Lalani AK, Basappa N, Mannas MP, Nayak JG, Bjarnason GA, Lattouf JB, Pouliot F, Richard PO, Tajzler C, Breau RH. Robert A, et al. Among authors: richard po. J Urol. 2024 Dec 2:101097JU0000000000004348. doi: 10.1097/JU.0000000000004348. Online ahead of print. J Urol. 2024. PMID: 39622017
Clinical impact of genetic testing in a large cohort of pediatric cardiomyopathies.
Ader F, Derridj N, Brehin AC, Domanski O, Baudelet JB, Gras P, Kuster A, Benbrik N, Troadec Y, Denjoy I, Bonnefoy R, Beyler C, El Chehadeh S, Schaeffer E, Dupin-Deguine D, Bloch A, Rooryck C, Proukhnitzky J, Bosser G, Vincenti M, Gandjbakhch E, Charron P, Richard P, Bonnet D, Khraiche D. Ader F, et al. Among authors: richard p. Int J Cardiol. 2025 Jan 15;419:132729. doi: 10.1016/j.ijcard.2024.132729. Epub 2024 Nov 14. Int J Cardiol. 2025. PMID: 39549770
1,049 results