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1993 1
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PubMed for id: 1809962

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Page 1
Bone health in children with Angelman syndrome at the ENCORE Expertise Center.
Bindels-de Heus KGCB, Hagenaar DA, Mous SE, Dekker I, van der Kaay DCM, Kerkhof GF, Elgersma Y, Moll HA, de Wit MY. Bindels-de Heus KGCB, et al. Eur J Pediatr. 2024 Jan;183(1):103-111. doi: 10.1007/s00431-023-05231-6. Epub 2023 Oct 13. Eur J Pediatr. 2024. PMID: 37831301 Free PMC article.
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Stefanski A, Pérez-Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, Johannesen KM, Goodspeed K, Macnee M, Deng AT, Aledo-Serrano Á, Borovikov A, Kava M, Bouman AM, Hajianpour MJ, Pal DK, Engelen M, Hagebeuk EEO, Shinawi M, Heidlebaugh AR, Oetjens K, Hoffman TL, Striano P, Freed AS, Futtrup L, Balslev T, Abulí A, Danvoye L, Lederer D, Balci T, Nouri MN, Butler E, Drewes S, van Engelen K, Howell KB, Khoury J, May P, Trinidad M, Froelich S, Lemke JR, Tiller J, Freed AN, Kang JQ, Wuster A, Møller RS, Lal D. Stefanski A, et al. Brain. 2023 Dec 1;146(12):5198-5208. doi: 10.1093/brain/awad292. Brain. 2023. PMID: 37647852 Free PMC article.
BCOR variants are associated with X-linked recessive partial epilepsy.
Li X, Bian WJ, Liu XR, Wang J, Luo S, Li BM, Yi YH, Wu QY, Zhai QX, Gao LD, Zhang HF, He N, Liao WP; China Epilepsy Gene 1.0 Project. Li X, et al. Epilepsy Res. 2022 Nov;187:107036. doi: 10.1016/j.eplepsyres.2022.107036. Epub 2022 Oct 19. Epilepsy Res. 2022. PMID: 36279688
21 results