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Page 1
STAC3 related congenital myopathy: A case series of seven Comorian patients.
Gromand M, Gueguen P, Pervillé A, Ferroul F, Morel G, Harouna A, Doray B, Urtizberea JA, Alessandri JL, Robin S. Gromand M, et al. Among authors: robin s. Eur J Med Genet. 2022 Oct;65(10):104598. doi: 10.1016/j.ejmg.2022.104598. Epub 2022 Aug 25. Eur J Med Genet. 2022. PMID: 36030003
Perlman syndrome: report, prenatal findings and review.
Alessandri JL, Cuillier F, Ramful D, Ernould S, Robin S, de Napoli-Cocci S, Rivière JP, Rossignol S. Alessandri JL, et al. Among authors: robin s. Am J Med Genet A. 2008 Oct 1;146A(19):2532-7. doi: 10.1002/ajmg.a.32391. Am J Med Genet A. 2008. PMID: 18780370 Review.
Neurologic manifestations of pediatric chikungunya infection.
Robin S, Ramful D, Le Seach' F, Jaffar-Bandjee MC, Rigou G, Alessandri JL. Robin S, et al. J Child Neurol. 2008 Sep;23(9):1028-35. doi: 10.1177/0883073808314151. Epub 2008 Feb 20. J Child Neurol. 2008. PMID: 18287573
Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.
Delahaye A, Khung-Savatovsky S, Aboura A, Guimiot F, Drunat S, Alessandri JL, Gérard M, Bitoun P, Boumendil J, Robin S, Huel C, Guilherme R, Serero S, Gressens P, Elion J, Verloes A, Benzacken B, Delezoide AL, Pipiras E. Delahaye A, et al. Among authors: robin s. Am J Med Genet A. 2012 Oct;158A(10):2430-8. doi: 10.1002/ajmg.a.35548. Epub 2012 Aug 17. Am J Med Genet A. 2012. PMID: 22903608
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E, Afenjar A, Barthez MA, Bednarek N, Doummar D, Faivre L, Goizet C, Haye D, Heron B, Kemlin I, Lacombe D, Milh M, Moutard ML, Riant F, Robin S, Roubertie A, Sarda P, Toutain A, Villard L, Ville D, Billette de Villemeur T, Rodriguez D, Burglen L. Valence S, et al. Among authors: robin s. Genet Med. 2019 Mar;21(3):553-563. doi: 10.1038/s41436-018-0089-2. Epub 2018 Jul 12. Genet Med. 2019. PMID: 29997391 Free article.
Emergence and clinical insights into the pathology of Chikungunya virus infection.
Jaffar-Bandjee MC, Ramful D, Gauzere BA, Hoarau JJ, Krejbich-Trotot P, Robin S, Ribera A, Selambarom J, Gasque P. Jaffar-Bandjee MC, et al. Among authors: robin s. Expert Rev Anti Infect Ther. 2010 Sep;8(9):987-96. doi: 10.1586/eri.10.92. Expert Rev Anti Infect Ther. 2010. PMID: 20818943 Review.
[Chikungunya virus infections in children].
Haas H, Robin S, Ramful D, Houdon L, Minodier P, Gérardin P. Haas H, et al. Among authors: robin s. Arch Pediatr. 2009 Oct;16 Suppl 2:S72-9. doi: 10.1016/S0929-693X(09)75305-9. Arch Pediatr. 2009. PMID: 19836680 French.
309 results