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214 results

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Page 1
Whole genome sequencing in paediatric channelopathy and cardiomyopathy.
Kwok SY, Kwong AKY, Shi JZ, Shih CFY, Lee M, Mak CCY, Chui M, Tsao S, Chung BHY. Kwok SY, et al. Among authors: chui m. Front Cardiovasc Med. 2024 Mar 20;11:1335527. doi: 10.3389/fcvm.2024.1335527. eCollection 2024. Front Cardiovasc Med. 2024. PMID: 38586174 Free PMC article.
Invasive cerebral phaeohyphomycosis in a Chinese boy with CARD9 deficiency and showing unique radiological features, managed with surgical excision and antifungal treatment.
Lai SHY, Duque JSR, Chung BH, Chung TW, Leung D, Ho RS, Lee R, Poon RWS, Chua GT, Cheong KN, Chui MMC, Lee M, Tam S, Him AHC, Cheng KF, Ho WW, Yuen KY, Lee P, Lau YL. Lai SHY, et al. Among authors: chui mmc. Int J Infect Dis. 2021 Jun;107:59-61. doi: 10.1016/j.ijid.2021.04.052. Epub 2021 Apr 16. Int J Infect Dis. 2021. PMID: 33872781 Free article.
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT, Yu MHC, Chui MMC, Yeung CCW, Kwok AWC, Zhuang X, Lee R, Fung JLF, Lee M, Mak CCY, Ng NYT, Chung CCY, Chan MCY, Tsang MHY, Chan JCK, Chan KYK, Kan ASY, Chung PHY, Yang W, Lee SL, Chan GCF, Tam PKH, Lau YL, Yeung KS, Chung BHY, Tang CSM. Chau JFT, et al. Among authors: chui mmc. NPJ Genom Med. 2022 Mar 21;7(1):23. doi: 10.1038/s41525-022-00287-z. NPJ Genom Med. 2022. PMID: 35314707 Free PMC article.
Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory.
Lai THT, Au LKS, Lau YTE, Lo HM, Chan KYK, Cheung KW, Ma TWL, Leung WC, Kong CW, Shu W, So PL, Kwong AKY, Mak CCY, Lee M, Chui MMC, Chung BHY, Kan ASY. Lai THT, et al. Among authors: chui mmc. Healthcare (Basel). 2022 Dec 13;10(12):2521. doi: 10.3390/healthcare10122521. Healthcare (Basel). 2022. PMID: 36554045 Free PMC article.
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways.
Magrinelli F, Tesson C, Angelova PR, Salazar-Villacorta A, Rodriguez JA, Scardamaglia A, Chung BH, Jaconelli M, Vona B, Esteras N, Kwong AK, Courtin T, Maroofian R, Alavi S, Nirujogi R, Severino M, Lewis PA, Efthymiou S, O'Callaghan B, Buchert R, Sofan L, Lis P, Pinon C, Breedveld GJ, Chui MM, Murphy D, Pitz V, Makarious MB, Cassar M, Hassan BA, Iftikhar S, Rocca C, Bauer P, Tinazzi M, Svetel M, Samanci B, Hanağası HA, Bilgiç B, Obeso JA, Kurtis MM, Cogan G, Başak AN, Kiziltan G, Gül T, Yalçın G, Elibol B, Barišić N, Ng EW, Fan SS, Hershkovitz T, Weiss K, Raza Alvi J, Sultan T, Azmi Alkhawaja I, Froukh T, E Alrukban HA, Fauth C, Schatz UA, Zöggeler T, Zech M, Stals K, Varghese V, Gandhi S, Blauwendraat C, Hardy JA, Lesage S, Bonifati V, Haack TB, Bertoli-Avella AM, Steinfeld R, Alessi DR, Steller H, Brice A, Abramov AY, Bhatia KP, Houlden H. Magrinelli F, et al. Among authors: chui mm. medRxiv [Preprint]. 2024 Jun 20:2024.06.19.24308302. doi: 10.1101/2024.06.19.24308302. medRxiv. 2024. PMID: 39148840 Free PMC article. Preprint.
Older Adult Misuse of Over-the-Counter Medications: Effectiveness of a Novel Pharmacy-Based Intervention to Improve Patient Safety.
Gilson AM, Chladek JS, Stone JA, Watterson TL, Lehnbom EC, Hoffins EL, Berbakov ME, Moon J, Jacobson NA, Holden RJ, Gangnon RE, Walbrandt Pigarelli DL, Welch LL, Portillo EC, Shiyanbola OO, Gollhardt J, Walker K, Chui MA. Gilson AM, et al. Among authors: chui ma. J Patient Saf. 2025 Jan 1;21(1):38-47. doi: 10.1097/PTS.0000000000001288. J Patient Saf. 2025. PMID: 39705382 Clinical Trial.
Interferon response and epigenetic modulation by SMARCA4 mutations drive ovarian tumor immunogenicity.
Brodeur MN, Dopeso H, Zhu Y, Longhini ALF, Gazzo A, Sun S, Koche RP, Qu R, Rosenberg L, Hamard PJ, Bykov Y, Green H, Gusain L, Chiappinelli KB, Ozsoy MA, Chui MH, Basili T, Gardner R, Walderich S, DeStanchina E, Greenbaum B, Gönen M, Vabret N, Weigelt B, Zamarin D. Brodeur MN, et al. Among authors: chui mh. Sci Adv. 2024 Dec 6;10(49):eadk4851. doi: 10.1126/sciadv.adk4851. Epub 2024 Dec 4. Sci Adv. 2024. PMID: 39630912 Free PMC article.
The High Prevalence and Complexity of Over-the-Counter Medication Misuse in Older Adults.
Chladek JS, Gilson AM, Stone JA, Berbakov ME, Watterson TL, Lehnbom EC, Hoffins EL, Hemesath KA, Moon J, Welch LL, Walbrandt Pigarelli DL, Portillo EC, Resendiz SM, Mai S, Chui MA. Chladek JS, et al. Among authors: chui ma. Innov Aging. 2024 Sep 10;8(10):igae083. doi: 10.1093/geroni/igae083. eCollection 2024. Innov Aging. 2024. PMID: 39464723 Free PMC article.
214 results