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Page 1
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: chan h. 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
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: chan h. 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.
Objective monitoring tools for improved management of childhood asthma.
Au-Doung PLW, Chan JCH, Kui OYH, Ho MKY, Cheung YT, Lam JKW, Chan HK, Brannan J, Chan KCC, Li AM, Leung SSY. Au-Doung PLW, et al. Among authors: chan hk. Respir Res. 2024 May 3;25(1):194. doi: 10.1186/s12931-024-02817-y. Respir Res. 2024. PMID: 38702779 Free PMC article. Review.
Methylation of the chromatin modifier KMT2D by SMYD2 contributes to therapeutic response in hormone-dependent breast cancer.
Blawski R, Vokshi BH, Guo X, Kittane S, Sallaku M, Chen W, Gjyzari M, Cheung T, Zhang Y, Simpkins C, Zhou W, Kulick A, Zhao P, Wei M, Shivashankar P, Prioleau T, Razavi P, Koche R, Rebecca VW, de Stanchina E, Castel P, Chan HM, Scaltriti M, Cocco E, Ji H, Luo M, Toska E. Blawski R, et al. Among authors: chan hm. Cell Rep. 2024 May 2;43(5):114174. doi: 10.1016/j.celrep.2024.114174. Online ahead of print. Cell Rep. 2024. PMID: 38700982 Free article.
6,084 results