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Page 1
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes.
Neurol Genet. 2020 Dec 3;6(6):e534. doi: 10.1212/NXG.0000000000000534. eCollection 2020 Dec.
Neurol Genet. 2020.
PMID: 33659639
Free PMC article.
Ketoacidosis at diagnosis of type 1 diabetes in French children and adolescents.
Choleau C, Maitre J, Filipovic Pierucci A, Elie C, Barat P, Bertrand AM, de Kerdanet M, Letallec C, Levy-Marchal C, Nicolino M, Tubiana-Rufi N, Cahané M, Robert JJ; AJD Study Group.
Choleau C, et al.
Diabetes Metab. 2014 Apr;40(2):137-42. doi: 10.1016/j.diabet.2013.11.001. Epub 2013 Dec 11.
Diabetes Metab. 2014.
PMID: 24332018
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Assessment of blood enterovirus PCR testing in paediatric populations with fever without source, sepsis-like disease, or suspected meningitis: a prospective, multicentre, observational cohort study.
Lafolie J, Labbé A, L'Honneur AS, Madhi F, Pereira B, Decobert M, Adam MN, Gouraud F, Faibis F, Arditty F, Marque-Juillet S, Guitteny MA, Lagathu G, Verdan M, Rozenberg F, Mirand A, Peigue-Lafeuille H, Henquell C, Bailly JL, Archimbaud C; Blood Enterovirus Diagnosis Infection (BLEDI) in paediatric population study team.
Lafolie J, et al.
Lancet Infect Dis. 2018 Dec;18(12):1385-1396. doi: 10.1016/S1473-3099(18)30479-1. Epub 2018 Oct 30.
Lancet Infect Dis. 2018.
PMID: 30389482
Free PMC article.
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A new mutation in COG7 extends the spectrum of COG subunit deficiencies.
Zeevaert R, Foulquier F, Cheillan D, Cloix I, Guffon N, Sturiale L, Garozzo D, Matthijs G, Jaeken J.
Zeevaert R, et al. Among authors: cloix i.
Eur J Med Genet. 2009 Sep-Oct;52(5):303-5. doi: 10.1016/j.ejmg.2009.06.006. Epub 2009 Jul 3.
Eur J Med Genet. 2009.
PMID: 19577670
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