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Journal of Hypertension|June 22, 2023
2023 ESH Guidelines for the management of arterial hypertension The Task Force for the management of arterial hypertension of the European Society of Hypertension: Endorsed by the International Society of Hypertension (ISH) and the European Renal Association (ERA)Giuseppe Mancia, Reinhold Kreutz, Mattias Brunström, et al.
American Journal of Human Genetics|January 31, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderSébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
Nature Communications|September 5, 2023
Search for 22Na in novae supported by a novel method for measuring femtosecond nuclear lifetimesChloé Fougères, François de Oliveira Santos, Jordi José, et al.
American Journal of Human Genetics|January 20, 2022
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorderSébastien Küry, Frédéric Ebstein, Alice Mollé, et al.
American Journal of Human Genetics|March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2022
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signatureRichard H van Jaarsveld, Jack Reilly, Marie-Claire Cornips, et al.
Nature Genetics|July 23, 2013
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac deathConnie R Bezzina, Julien Barc, Yuka Mizusawa, et al.
Physical Review Letters|May 6, 2017
_{36}^{96}Kr_{60}-Low-Z Boundary of the Island of Deformation at N=60J Dudouet, A Lemasson, G Duchêne, et al.
Medrxiv : the Preprint Server for Health Sciences|July 17, 2026
Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndromeAlex Lipov, Manon Baudic, Pierre Lindenbaum, et al.
Clinical Genetics|November 20, 2015
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national surveyM Lefebvre, D Sanlaville, N Marle, et al.
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