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594 results

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29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
Monin ML, Mignot C, De Lonlay P, Héron B, Masurel A, Mathieu-Dramard M, Lenaerts C, Thauvin C, Gérard M, Roze E, Jacquette A, Charles P, de Baracé C, Drouin-Garraud V, Khau Van Kien P, Cormier-Daire V, Mayer M, Ogier H, Brice A, Seta N, Héron D. Monin ML, et al. Among authors: heron d, heron b. Orphanet J Rare Dis. 2014 Dec 11;9:207. doi: 10.1186/s13023-014-0207-4. Orphanet J Rare Dis. 2014. PMID: 25497157 Free PMC article.
Sleep disorders in childhood-onset myotonic dystrophy type 1.
Quera Salva MA, Blumen M, Jacquette A, Durand MC, Andre S, De Villiers M, Eymard B, Lofaso F, Heron D. Quera Salva MA, et al. Among authors: heron d. Neuromuscul Disord. 2006 Oct;16(9-10):564-70. doi: 10.1016/j.nmd.2006.06.007. Epub 2006 Aug 23. Neuromuscul Disord. 2006. PMID: 16934465
Early neurological phenotype in 4 children with biallelic PRODH mutations.
Afenjar A, Moutard ML, Doummar D, Guët A, Rabier D, Vermersch AI, Mignot C, Burglen L, Heron D, Thioulouse E, de Villemeur TB, Campion D, Rodriguez D. Afenjar A, et al. Among authors: heron d. Brain Dev. 2007 Oct;29(9):547-52. doi: 10.1016/j.braindev.2007.01.008. Epub 2007 Apr 6. Brain Dev. 2007. PMID: 17412540
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, Fehrenbach S, Holder-Espinasse M, Roume J, Malan V, Portnoi MF, Jeanne N, Baumann C, Héron D, David A, Gérard M, Bonneau D, Lacombe D, Cormier-Daire V, Billette de Villemeur T, Frébourg T, Bürglen L. Saugier-Veber P, et al. Among authors: heron d. Hum Mutat. 2007 Nov;28(11):1098-107. doi: 10.1002/humu.20568. Hum Mutat. 2007. PMID: 17565729
The three stages of epilepsy in patients with CDKL5 mutations.
Bahi-Buisson N, Kaminska A, Boddaert N, Rio M, Afenjar A, Gérard M, Giuliano F, Motte J, Héron D, Morel MA, Plouin P, Richelme C, des Portes V, Dulac O, Philippe C, Chiron C, Nabbout R, Bienvenu T. Bahi-Buisson N, et al. Among authors: heron d. Epilepsia. 2008 Jun;49(6):1027-37. doi: 10.1111/j.1528-1167.2007.01520.x. Epub 2008 Feb 7. Epilepsia. 2008. PMID: 18266744 Free article.
594 results