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203 results

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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A; Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG); Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH. Ng BG, et al. Among authors: cousin j. J Inherit Metab Dis. 2020 Nov;43(6):1333-1348. doi: 10.1002/jimd.12290. Epub 2020 Aug 5. J Inherit Metab Dis. 2020. PMID: 32681751 Free PMC article.
PIGN encephalopathy: Characterizing the epileptology.
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG. Bayat A, et al. Among authors: cousin j. Epilepsia. 2022 Apr;63(4):974-991. doi: 10.1111/epi.17173. Epub 2022 Feb 18. Epilepsia. 2022. PMID: 35179230
Femoral nerve inguinal approach versus proximal femoral triangle ap proach for continuous regional analgesia in active rehabilitation after total knee arthroplasty: A prospective, randomised study.
Guilley J, Besançon I, Hivert A, Plouhinec AM, Oudot M, Venet G, Fraquet N, Cousin J, Planche L, Ganière C, Duchalais A. Guilley J, et al. Among authors: cousin j. Anaesth Crit Care Pain Med. 2022 Apr;41(2):101043. doi: 10.1016/j.accpm.2022.101043. Epub 2022 Feb 19. Anaesth Crit Care Pain Med. 2022. PMID: 35189397 Clinical Trial.
Extracorporeal membrane oxygenation network organisation and clinical outcomes during the COVID-19 pandemic in Greater Paris, France: a multicentre cohort study.
Lebreton G, Schmidt M, Ponnaiah M, Folliguet T, Para M, Guihaire J, Lansac E, Sage E, Cholley B, Mégarbane B, Cronier P, Zarka J, Da Silva D, Besset S, Morichau-Beauchant T, Lacombat I, Mongardon N, Richard C, Duranteau J, Cerf C, Saiydoun G, Sonneville R, Chiche JD, Nataf P, Longrois D, Combes A, Leprince P; Paris ECMO-COVID-19 investigators. Lebreton G, et al. Lancet Respir Med. 2021 Aug;9(8):851-862. doi: 10.1016/S2213-2600(21)00096-5. Epub 2021 Apr 19. Lancet Respir Med. 2021. PMID: 33887246 Free PMC article.
Atmospheric Measurements by Ultra-Light SpEctrometer (AMULSE) Dedicated to Vertical Profile in Situ Measurements of Carbon Dioxide (CO₂) Under Weather Balloons: Instrumental Development and Field Application.
Joly L, Maamary R, Decarpenterie T, Cousin J, Dumelié N, Chauvin N, Legain D, Tzanos D, Durry G. Joly L, et al. Among authors: cousin j. Sensors (Basel). 2016 Sep 29;16(10):1609. doi: 10.3390/s16101609. Sensors (Basel). 2016. PMID: 27690046 Free PMC article.
203 results