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Page 1
Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
Cerebral Palsy: Early Markers of Clinical Phenotype and Functional Outcome.
Einspieler C, Bos AF, Krieber-Tomantschger M, Alvarado E, Barbosa VM, Bertoncelli N, Burger M, Chorna O, Del Secco S, DeRegnier RA, Hüning B, Ko J, Lucaccioni L, Maeda T, Marchi V, Martín E, Morgan C, Mutlu A, Nogolová A, Pansy J, Peyton C, Pokorny FB, Prinsloo LR, Ricci E, Saini L, Scheuchenegger A, Silva CRD, Soloveichick M, Spittle AJ, Toldo M, Utsch F, van Zyl J, Viñals C, Wang J, Yang H, Yardımcı-Lokmanoğlu BN, Cioni G, Ferrari F, Guzzetta A, Marschik PB. Einspieler C, et al. J Clin Med. 2019 Oct 4;8(10):1616. doi: 10.3390/jcm8101616. J Clin Med. 2019. PMID: 31590221 Free PMC article.
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
Ardissone A, Tonduti D, Legati A, Lamantea E, Barone R, Dorboz I, Boespflug-Tanguy O, Nebbia G, Maggioni M, Garavaglia B, Moroni I, Farina L, Pichiecchio A, Orcesi S, Chiapparini L, Ghezzi D. Ardissone A, et al. Orphanet J Rare Dis. 2018 Apr 4;13(1):45. doi: 10.1186/s13023-018-0788-4. Orphanet J Rare Dis. 2018. PMID: 29615062 Free PMC article. Review.
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.
D'Abrusco F, Arrigoni F, Serpieri V, Romaniello R, Caputi C, Manti F, Jocic-Jakubi B, Lucarelli E, Panzeri E, Bonaglia MC, Chiapparini L, Pichiecchio A, Pinelli L, Righini A, Leuzzi V, Borgatti R, Valente EM. D'Abrusco F, et al. Cerebellum. 2022 Dec;21(6):1144-1150. doi: 10.1007/s12311-021-01350-8. Epub 2021 Nov 30. Cerebellum. 2022. PMID: 34846692
20 results