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The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders.
Front Neurosci. 2023 Aug 17;17:1216653. doi: 10.3389/fnins.2023.1216653. eCollection 2023.
Front Neurosci. 2023.
PMID: 37662110
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. Among authors: oetjens k.
Brain. 2023 Dec 1;146(12):5198-5208. doi: 10.1093/brain/awad292.
Brain. 2023.
PMID: 37647852
Free PMC article.
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Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Rosenfeld JA, Xiao R, Bekheirnia MR, Kanani F, Parker MJ, Koenig MK, van Haeringen A, Ruivenkamp C, Rosmaninho-Salgado J, Almeida PM, Sá J, Pinto Basto J, Palen E, Oetjens KF, Burrage LC, Xia F, Liu P, Eng CM; Undiagnosed Diseases Network; Yang Y, Posey JE, Lee BH.
Rosenfeld JA, et al. Among authors: oetjens kf.
Am J Med Genet A. 2021 Jul;185(7):2037-2045. doi: 10.1002/ajmg.a.62201. Epub 2021 Apr 13.
Am J Med Genet A. 2021.
PMID: 33847457
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