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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Paul MS, et al. Among authors: maier a. Am J Hum Genet. 2024 Jan 4;111(1):96-118. doi: 10.1016/j.ajhg.2023.12.004. Am J Hum Genet. 2024. PMID: 38181735
Case report. Toluene diisocyanate.
Cohen SR, Maier AA. Cohen SR, et al. Among authors: maier aa. J Occup Med. 1974 Feb;16(2):114-8. J Occup Med. 1974. PMID: 4273814 No abstract available.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Perne C, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Banos-Pinero B, Pagnamenta AT, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Paul MS, et al. Among authors: maier a. Am J Hum Genet. 2024 Apr 4;111(4):805. doi: 10.1016/j.ajhg.2024.03.009. Epub 2024 Mar 20. Am J Hum Genet. 2024. PMID: 38508193 Free article. No abstract available.
Investigating the Impact of Tea Consumption on Cognitive Function and Exploring Tea-Genetic Interactions in Older Adults Aged 65-105 Years: Findings from the 2002-2018 CLHLS Data.
Yu L, Yang M, Ye KX, Li C, Zou M, Wang J, Yuan X, Zheng D, Sun C, Zhang Y, Feng Q, Maier AB, Sun L, Feng L, Wang Y, Chen H, Zeng Y. Yu L, et al. Among authors: maier ab. J Prev Alzheimers Dis. 2024;11(3):769-779. doi: 10.14283/jpad.2024.22. J Prev Alzheimers Dis. 2024. PMID: 38706293
Glaucoma detection using non-perfused areas in OCTA.
Schottenhamml J, Würfl T, Ploner S, Husvogt L, Lämmer R, Hohberger B, Maier A, Mardin C. Schottenhamml J, et al. Among authors: maier a. Sci Rep. 2024 May 5;14(1):10306. doi: 10.1038/s41598-024-60839-4. Sci Rep. 2024. PMID: 38705883 Free PMC article.
1,915 results