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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study; Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium; Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource; Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network; Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D… See abstract for full author list ➔ Cif L, et al. Among authors: blanchet c. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.
[Stridor or not stridor].
Mondain M, Blanchet C. Mondain M, et al. Among authors: blanchet c. Arch Pediatr. 2010 Jun;17(6):602-3. doi: 10.1016/S0929-693X(10)70018-X. Arch Pediatr. 2010. PMID: 20654800 French. No abstract available.
Tracheal injury complicating Sistrunk's thyroglossal cyst surgery.
Blanc F, Blanchet C, Mondain M, Akkari M. Blanc F, et al. Among authors: blanchet c. Eur Ann Otorhinolaryngol Head Neck Dis. 2020 Mar;137(2):131-133. doi: 10.1016/j.anorl.2019.10.005. Epub 2019 Oct 22. Eur Ann Otorhinolaryngol Head Neck Dis. 2020. PMID: 31653460 Free article.
Pregnancy in MNGIE: a clinical and metabolic honeymoon.
Pappalardo P, Benoist JF, Bax BE, Carra-Dallière C, Marelli C, Levene M, Begue L, Rolland A, Flori N, Rivier F, Blanchet C, Munnich A, Altwegg R, Meyer P, Roubertie A. Pappalardo P, et al. Among authors: blanchet c. Ann Clin Transl Neurol. 2020 Dec;7(12):2484-2488. doi: 10.1002/acn3.51202. Epub 2020 Nov 7. Ann Clin Transl Neurol. 2020. PMID: 33159497 Free PMC article.
240 results