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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2001 1
2002 3
2003 7
2004 8
2005 7
2006 5
2007 6
2008 4
2009 11
2010 8
2011 6
2012 8
2013 9
2014 7
2015 8
2016 6
2017 7
2018 7
2019 5
2020 9
2021 14
2022 19
2023 15
2024 6

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160 results

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Page 1
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J, Masingue M, Behin A, Ferreiro A, Bassez G, Jaubert P, Tarabay O, Fer F, Pegat A, Bouhour F, Svahn J, Petiot P, Jomir L, Chauplannaz G, Cornut-Chauvinc C, Manel V, Salort-Campana E, Attarian S, Fortanier E, Verschueren A, Kouton L, Camdessanché JP, Tard C, Magot A, Péréon Y, Noury JB, Minot-Myhie MC, Perie M, Taithe F, Farhat Y, Millet AL, Cintas P, Solé G, Spinazzi M, Esselin F, Renard D, Sacconi S, Ezaru A, Malfatti E, Mallaret M, Magy L, Diab E, Merle P, Michaud M, Fournier M, Pakleza AN, Chanson JB, Lefeuvre C, Laforet P, Richard P, Sternberg D, Villar-Quiles RN, Stojkovic T, Eymard B. Theuriet J, et al. Among authors: richard p. Brain. 2024 May 2:awae124. doi: 10.1093/brain/awae124. Online ahead of print. Brain. 2024. PMID: 38696726
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.
Ader F, Jedraszak G, Janin A, Billon C, Buisson NR, Bloch A, Bensalah M, De Sandre-Giovannoli A, Goudal A, Marsili L, Cazeneuve C, Charron P, Millat G, Richard P; Cardiogen French Network of Molecular Biologists. Ader F, et al. Among authors: richard p. Clin Genet. 2024 Jun;105(6):676-682. doi: 10.1111/cge.14505. Epub 2024 Feb 14. Clin Genet. 2024. PMID: 38356193
Prevalence and Significance of Rare Genetic Variants in AKAP9 in Inherited Cardiac Diseases.
Hermida A, Ader F, Jedraszak G, Viboud G, Fressart V, Bréhin AC, Gérard M, Khraiche D, Palmyre A, Paziaud O, Popescu E, Proukhnitzky J, Laredo M, Richard P, Vedrenne G, Vernier A, Charron P, Gandjbakhch E. Hermida A, et al. Among authors: richard p. Circ Genom Precis Med. 2024 Feb;17(1):e004260. doi: 10.1161/CIRCGEN.123.004260. Epub 2024 Jan 23. Circ Genom Precis Med. 2024. PMID: 38258564 No abstract available.
Implementation of amotosalen plus ultraviolet A-mediated pathogen reduction for all platelet concentrates in France: Impact on the risk of transfusion-transmitted infections.
Richard P, Pouchol E, Sandid I, Aoustin L, Lefort C, Chartois AG, Baima A, Malard L, Bacquet C, Ferrera-Tourenc V, Gallian P, Laperche S, Bliem C, Morel P, Tiberghien P. Richard P, et al. Vox Sang. 2024 Mar;119(3):212-218. doi: 10.1111/vox.13574. Epub 2023 Dec 28. Vox Sang. 2024. PMID: 38152857
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
Hermida A, Ader F, Millat G, Jedraszak G, Maury P, Cador R, Catalan PA, Clerici G, Combes N, De Groote P, Dupin-Deguine D, Eschalier R, Faivre L, Garcia P, Guillon B, Janin A, Kugener B, Lackmy M, Laredo M, Le Guillou X, Lesaffre F, Lucron H, Milhem A, Nadeau G, Nguyen K, Palmyre A, Perdreau E, Picard F, Rebotier N, Richard P, Rooryck C, Seitz J, Verloes A, Vernier A, Winum P, Yabeta GA, Bouchot O, Chevalier P, Charron P, Gandjbakhch E. Hermida A, et al. Among authors: richard p. Circ Genom Precis Med. 2024 Feb;17(1):e004285. doi: 10.1161/CIRCGEN.123.004285. Epub 2023 Dec 7. Circ Genom Precis Med. 2024. PMID: 38059363 Free article.
International Forum on Blood Donation in Individuals with Current, Past or Germline Predisposition to Malignancy: Responses.
Baggio D, Fox LC, Wood EM, Aditya RN, Goldman M, van den Berg K, Kayser S, Wuchter P, Namba N, Tsuno NH, Makino S, Lee CK, Akhtar N, Shah F, Miflin G, Prati D, La Raja M, Rocca U, Richard P, Tiberghien P, Harley RJ, Raouf MY, Sharma R, Kaur S, Bruijns S, Prakke-Weekamp H, Dunbar N. Baggio D, et al. Among authors: richard p. Vox Sang. 2023 Dec;118(12):1122-1144. doi: 10.1111/vox.13550. Epub 2023 Nov 15. Vox Sang. 2023. PMID: 37966022 No abstract available.
International Forum on Blood Donation in Individuals with Current, Past or Germline Predisposition to Malignancy: Summary.
Baggio D, Fox LC, Wood EM, Aditya RN, Goldman M, van den Berg K, Kayser S, Wuchter P, Namba N, Tsuno NH, Makino S, Lee CK, Akhtar N, Shah F, Miflin G, Prati D, La Raja M, La Rocca U, Richard P, Tiberghien P, Harley RJ, Raouf MY, Sharma R, Kaur S, Bruijns S, Prakke-Weekamp H, Dunbar N. Baggio D, et al. Among authors: richard p. Vox Sang. 2023 Dec;118(12):1115-1121. doi: 10.1111/vox.13549. Epub 2023 Nov 15. Vox Sang. 2023. PMID: 37966010 No abstract available.
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.
160 results