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De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.
Pediatr Neurol. 2023 Nov;148:164-171. doi: 10.1016/j.pediatrneurol.2023.08.023. Epub 2023 Aug 24.
Pediatr Neurol. 2023.
PMID: 37734130
Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.
Jauss RT, Schließke S, Abou Jamra R.
Jauss RT, et al. Among authors: schliesske s.
Genes (Basel). 2022 Dec 7;13(12):2305. doi: 10.3390/genes13122305.
Genes (Basel). 2022.
PMID: 36553572
Free PMC article.
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Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H; Rady Children's Institute for Genomic Medicine; Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schließke S, Shashi V, Srivastava S, Thiffault I, Topol S; Undiagnosed Disease Network; Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J.
Bainbridge MN, et al. Among authors: schliesske s.
Brain. 2022 Oct 21;145(10):3383-3390. doi: 10.1093/brain/awac223.
Brain. 2022.
PMID: 35737950
Free PMC article.
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