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Page 1
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Kaspi A, Hildebrand MS, Jackson VE, Braden R, van Reyk O, Howell T, Debono S, Lauretta M, Morison L, Coleman MJ, Webster R, Coman D, Goel H, Wallis M, Dabscheck G, Downie L, Baker EK, Parry-Fielder B, Ballard K, Harrold E, Ziegenfusz S, Bennett MF, Robertson E, Wang L, Boys A, Fisher SE, Amor DJ, Scheffer IE, Bahlo M, Morgan AT. Kaspi A, et al. Among authors: hildebrand ms. Mol Psychiatry. 2023 Apr;28(4):1647-1663. doi: 10.1038/s41380-022-01764-8. Mol Psychiatry. 2023. PMID: 36117209 Free PMC article.
Cochlear implants for DFNA17 deafness.
Hildebrand MS, de Silva MG, Gardner RJ, Rose E, de Graaf CA, Bahlo M, Dahl HH. Hildebrand MS, et al. Laryngoscope. 2006 Dec;116(12):2211-5. doi: 10.1097/01.mlg.0000242089.72880.f8. Laryngoscope. 2006. PMID: 17146397
Recent advances in the molecular genetics of epilepsy.
Hildebrand MS, Dahl HH, Damiano JA, Smith RJ, Scheffer IE, Berkovic SF. Hildebrand MS, et al. J Med Genet. 2013 May;50(5):271-9. doi: 10.1136/jmedgenet-2012-101448. Epub 2013 Mar 6. J Med Genet. 2013. PMID: 23468209 Review.
Does variation in NIPA2 contribute to genetic generalized epilepsy?
Hildebrand MS, Damiano JA, Mullen SA, Bellows ST, Scheffer IE, Berkovic SF. Hildebrand MS, et al. Hum Genet. 2014 May;133(5):673-4. doi: 10.1007/s00439-013-1414-0. Epub 2014 Jan 10. Hum Genet. 2014. PMID: 24408008 No abstract available.
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
Damiano JA, Afawi Z, Bahlo M, Mauermann M, Misk A, Arsov T, Oliver KL, Dahl HH, Shearer AE, Smith RJ, Hall NE, Mahmood K, Leventer RJ, Scheffer IE, Muona M, Lehesjoki AE, Korczyn AD, Herrmann H, Berkovic SF, Hildebrand MS. Damiano JA, et al. Among authors: hildebrand ms. Hum Mol Genet. 2015 Aug 15;24(16):4483-90. doi: 10.1093/hmg/ddv171. Epub 2015 May 7. Hum Mol Genet. 2015. PMID: 25954030 Free PMC article.
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy.
Hildebrand MS, Tankard R, Gazina EV, Damiano JA, Lawrence KM, Dahl HH, Regan BM, Shearer AE, Smith RJ, Marini C, Guerrini R, Labate A, Gambardella A, Tinuper P, Lichetta L, Baldassari S, Bisulli F, Pippucci T, Scheffer IE, Reid CA, Petrou S, Bahlo M, Berkovic SF. Hildebrand MS, et al. Ann Clin Transl Neurol. 2015 Aug;2(8):821-30. doi: 10.1002/acn3.224. Epub 2015 Jul 3. Ann Clin Transl Neurol. 2015. PMID: 26339676 Free PMC article.
198 results