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Genetic variants in canonical Wnt signaling pathway associated with pediatric immune thrombocytopenia.
Kim TO, Geris JM, Flanagan JM, Grace RF, Lambert MP, O'Farrell C, Rose MJ, Shimano KA, Niss O, Neunert C, Nakano TA, MacMath D, Dinu B, Kirk SE, Neufeld EJ, Despotovic JM, Scheurer ME, Grimes AB. Kim TO, et al. Among authors: kirk se. Blood Adv. 2024 Nov 12;8(21):5529-5538. doi: 10.1182/bloodadvances.2024012776. Blood Adv. 2024. PMID: 39189922 Free PMC article.
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE; Baylor College of Medicine Center for Precision Medicine Models; Wangler MF, Yamamoto S, Chung WK, Bellen HJ. Pan X, et al. Among authors: kirk se. Am J Hum Genet. 2024 Apr 4;111(4):742-760. doi: 10.1016/j.ajhg.2024.02.007. Epub 2024 Mar 12. Am J Hum Genet. 2024. PMID: 38479391 Free PMC article.
Chorioamnionitis disrupts erythropoietin and melatonin homeostasis through the placental-fetal-brain axis during critical developmental periods.
Kitase Y, Madurai NK, Hamimi S, Hellinger RL, Odukoya OA, Ramachandra S, Muthukumar S, Vasan V, Sevensky R, Kirk SE, Gall A, Heck T, Ozen M, Orsburn BC, Robinson S, Jantzie LL. Kitase Y, et al. Among authors: kirk se. Front Physiol. 2023 Jul 20;14:1201699. doi: 10.3389/fphys.2023.1201699. eCollection 2023. Front Physiol. 2023. PMID: 37546540 Free PMC article.
52 results