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GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.
Kleinendorst L, Abawi O, Vos N, van der Valk ES, Maas SM, Morgan AT, Hildebrand MS, Da Silva JD, Florijn RJ, Lauffer P, Visser JA, van Rossum EFC, van den Akker ELT, van Haelst MM. Kleinendorst L, et al. Among authors: hildebrand ms. Clin Obes. 2024 Apr 10:e12661. doi: 10.1111/cob.12661. Online ahead of print. Clin Obes. 2024. PMID: 38596856
Genetic architecture of childhood speech disorder: a review.
Morgan AT, Amor DJ, St John MD, Scheffer IE, Hildebrand MS. Morgan AT, et al. Among authors: hildebrand ms. Mol Psychiatry. 2024 Feb 16. doi: 10.1038/s41380-024-02409-8. Online ahead of print. Mol Psychiatry. 2024. PMID: 38366112 Review.
Somatic mosaicism in focal epilepsies.
Gooley S, Perucca P, Tubb C, Hildebrand MS, Berkovic SF. Gooley S, et al. Among authors: hildebrand ms. Curr Opin Neurol. 2024 Apr 1;37(2):105-114. doi: 10.1097/WCO.0000000000001244. Epub 2024 Jan 18. Curr Opin Neurol. 2024. PMID: 38235675 Review.
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Morgan AT, Scerri TS, Vogel AP, Reid CA, Quach M, Jackson VE, McKenzie C, Burrows EL, Bennett MF, Turner SJ, Reilly S, Horton SE, Block S, Kefalianos E, Frigerio-Domingues C, Sainz E, Rigbye KA, Featherby TJ, Richards KL, Kueh A, Herold MJ, Corbett MA, Gecz J, Helbig I, Thompson-Lake DGY, Liégeois FJ, Morell RJ, Hung A, Drayna D, Scheffer IE, Wright DK, Bahlo M, Hildebrand MS. Morgan AT, et al. Among authors: hildebrand ms. Brain. 2023 Dec 1;146(12):5086-5097. doi: 10.1093/brain/awad314. Brain. 2023. PMID: 37977818
Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis.
Ye Z, Lin S, Zhao X, Wallis M, Gao X, Sun L, Wu J, Duan J, Yao Y, Li L, Chen L, Cao D, Hu Z, Zhang VW, Berkovic SF, Scheffer IE, Liao J, Hildebrand MS. Ye Z, et al. Among authors: hildebrand ms. Pediatr Neurol. 2024 Jan;150:37-39. doi: 10.1016/j.pediatrneurol.2023.10.008. Epub 2023 Oct 22. Pediatr Neurol. 2024. PMID: 37951160 Free article. No abstract available.
Genetic Hearing Loss Overview.
Shearer AE, Hildebrand MS, Schaefer AM, Smith RJH. Shearer AE, et al. Among authors: hildebrand ms. 1999 Feb 14 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1999 Feb 14 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301607 Free Books & Documents. Review.
Erratum to ' Taking action on climate change: Testimonials and position statement from the International League Against Epilepsy Climate Change Commission' [Seizure Volume 106, March 2023, Pages 68-75].
Aledo-Serrano A, Battaglia G, Blenkinsop S, Delanty N, Elbendary HM, Eyal S, Guekht A, Gulcebi MI, Henshall DC, Hildebrand MS, Macrohon B, Madaan P, Mifsud J, Mills JD, Neill KH, Romagnolo A, Vezzani A, Sisodiya SM. Aledo-Serrano A, et al. Among authors: hildebrand ms. Seizure. 2023 Oct;111:164. doi: 10.1016/j.seizure.2023.08.013. Epub 2023 Aug 26. Seizure. 2023. PMID: 37639957 No abstract available.
154 results