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

Year Number of Results
1978 1
1987 1
2001 1
2002 1
2003 2
2004 4
2005 2
2006 2
2007 3
2008 5
2009 7
2010 7
2011 8
2012 10
2013 5
2014 4
2015 10
2016 6
2017 9
2018 2
2019 1
2020 3
2021 9
2022 9
2023 11
2024 1

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102 results

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Page 1
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.
Kishnani PS, Kronn D, Brassier A, Broomfield A, Davison J, Hahn SH, Kumada S, Labarthe F, Ohki H, Pichard S, Prakalapakorn SG, Haack KA, Kittner B, Meng X, Sparks S, Wilson C, Zaher A, Chien YH; Mini-COMET Investigators. Kishnani PS, et al. Among authors: labarthe f. Genet Med. 2023 Feb;25(2):100328. doi: 10.1016/j.gim.2022.10.010. Epub 2022 Dec 21. Genet Med. 2023. PMID: 36542086 Free article. Clinical Trial.
[Investigation of hyperhomocysteinemia].
Veyrat-Durebex C, Blasco H, Crinier J, Vayne C, Emond P, Labarthe F, Andres CR, Maillot F. Veyrat-Durebex C, et al. Among authors: labarthe f. Ann Biol Clin (Paris). 2013 Sep-Oct;71(5):517-25. doi: 10.1684/abc.2013.0879. Ann Biol Clin (Paris). 2013. PMID: 24113437 Free article. Review. French.
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M. Russell BE, et al. Among authors: labarthe f. Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. Hepatology. 2019. PMID: 30912852 Review. No abstract available.
Cardiac anaplerosis in health and disease: food for thought.
Des Rosiers C, Labarthe F, Lloyd SG, Chatham JC. Des Rosiers C, et al. Among authors: labarthe f. Cardiovasc Res. 2011 May 1;90(2):210-9. doi: 10.1093/cvr/cvr055. Epub 2011 Mar 11. Cardiovasc Res. 2011. PMID: 21398307 Free PMC article. Review.
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.
Lefèvre CR, Labarthe F, Dufour D, Moreau C, Faoucher M, Rollier P, Arnoux JB, Tardieu M, Damaj L, Bendavid C, Dessein AF, Acquaviva-Bourdain C, Cheillan D. Lefèvre CR, et al. Among authors: labarthe f. Int J Neonatal Screen. 2023 Feb 1;9(1):6. doi: 10.3390/ijns9010006. Int J Neonatal Screen. 2023. PMID: 36810318 Free PMC article. Review.
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
Levaillant L, Bouhours-Nouet N, Illouz F, Amsellem Jager J, Bachelot A, Barat P, Baron S, Bensignor C, Brac De La Perriere A, Braik Djellas Y, Caillot M, Caldagues E, Campas MN, Caquard M, Cartault A, Cheignon J, Decrequy A, Delemer B, Dieckmann K, Donzeau A, Doye E, Fradin M, Gaudillière M, Gatelais F, Gorce M, Hazart I, Houcinat N, Houdon L, Ister-Salome M, Jozwiak L, Jeannoel P, Labarthe F, Lacombe D, Lambert AS, Lefevre C, Leheup B, Leroy C, Maisonneuve B, Marchand I, Marquant E, Muszlak M, Pantalone L, Pochelu S, Quelin C, Radet C, Renoult-Pierre P, Reynaud R, Rouleau S, Teinturier C, Thevenon J, Turlotte C, Valle A, Vierge M, Villanueva C, Ziegler A, Dieu X, Bouzamondo N, Rodien P, Prunier-Mirebeau D, Coutant R. Levaillant L, et al. Among authors: labarthe f. J Clin Endocrinol Metab. 2023 Aug 18;108(9):e779-e788. doi: 10.1210/clinem/dgad119. J Clin Endocrinol Metab. 2023. PMID: 36884306 Free PMC article.
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani A, Sudrié-Arnaud B, Dabaj I, Torre S, Domitille L, Snanoudj S, Heron B, Levade T, Caillaud C, Vergnaud S, Saugier-Veber P, Coutant S, Dranguet H, Froissart R, Al Khouri M, Alembik Y, Baruteau J, Arnoux JB, Brassier A, Brehin AC, Busa T, Cano A, Chabrol B, Coubes C, Desguerre I, Doco-Fenzy M, Drenou B, Elcioglu NH, Elsayed S, Fouilhoux A, Poirsier C, Goldenberg A, Jouvencel P, Kuster A, Labarthe F, Lazaro L, Pichard S, Rivera S, Roche S, Roggerone S, Roubertie A, Sigaudy S, Spodenkiewicz M, Tardieu M, Vanhulle C, Marret S, Bekri S. Tebani A, et al. Among authors: labarthe f. J Med Genet. 2022 Apr;59(4):377-384. doi: 10.1136/jmedgenet-2020-107510. Epub 2021 Mar 18. J Med Genet. 2022. PMID: 33737400
102 results