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Page 1
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.
Ahmad N, Fazeli W, Schließke S, Lesca G, Gokce-Samar Z, Mekbib KY, Jin SC, Burton J, Hoganson G, Petersen A, Gracie S, Granger L, Bartels E, Oppermann H, Kundishora A, Till M, Milleret-Pignot C, Dangerfield S, Viskochil D, Anderson KJ, Palculict TB, Schnur RE, Wentzensen IM, Tiller GE, Kahle KT, Kunz WS, Burkart S, Simons M, Sticht H, Abou Jamra R, Neuser S. Ahmad N, et al. Among authors: anderson kj. Pediatr Neurol. 2023 Nov;148:164-171. doi: 10.1016/j.pediatrneurol.2023.08.023. Epub 2023 Aug 24. Pediatr Neurol. 2023. PMID: 37734130
MADD-like pattern of acylcarnitines associated with sertraline use.
Ingoglia F, Tanfous M, Ellezam B, Anderson KJ, Pasquali M, Botto LD. Ingoglia F, et al. Among authors: anderson kj. Mol Genet Metab Rep. 2024 Sep 16;41:101142. doi: 10.1016/j.ymgmr.2024.101142. eCollection 2024 Dec. Mol Genet Metab Rep. 2024. PMID: 39318848 Free PMC article.
Novel Uveal Melanoma Patient-Derived Organoid Models Recapitulate Human Disease to Support Translational Research.
Dalvin LA, Andrews-Pfannkoch CM, Miley DR, Hogenson TL, Erickson SA, Malpotra S, Anderson KJ, Omer ME, Almada LL, Zhang C, Li H, Salomao DR, Shields CL, Lally SE, Malsch RM, Armitage JA, Holmes HL, Romero MF, Fautsch MP, Markovic SN, Fernandez-Zapico ME. Dalvin LA, et al. Among authors: anderson kj. Invest Ophthalmol Vis Sci. 2024 Nov 4;65(13):60. doi: 10.1167/iovs.65.13.60. Invest Ophthalmol Vis Sci. 2024. PMID: 39601636
SMYD5 is a regulator of the mild hypothermia response.
Rafnsdottir S, Jang K, Halldorsdottir ST, Vinod M, Tomasdottir A, Möller K, Halldorsdottir K, Reynisdottir T, Atladottir LH, Allison KE, Ostacolo K, He J, Zhang L, Northington FJ, Magnusdottir E, Chavez-Valdez R, Anderson KJ, Bjornsson HT. Rafnsdottir S, et al. Among authors: anderson kj. Cell Rep. 2024 Aug 27;43(8):114554. doi: 10.1016/j.celrep.2024.114554. Epub 2024 Jul 30. Cell Rep. 2024. PMID: 39083378 Free PMC article.
Ring Chromosome 14 with a Terminal 14q32.33 Deletion.
Gardner JA, Haslett N, Giguere HG, Anderson KJ. Gardner JA, et al. Among authors: anderson kj. J Assoc Genet Technol. 2024;50(2):69-73. J Assoc Genet Technol. 2024. PMID: 38824650
444 results