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Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Faundes V, Goh S, Akilapa R, Bezuidenhout H, Bjornsson HT, Bradley L, Brady AF, Brischoux-Boucher E, Brunner H, Bulk S, Canham N, Cody D, Dentici ML, Digilio MC, Elmslie F, Fry AE, Gill H, Hurst J, Johnson D, Julia S, Lachlan K, Lebel RR, Byler M, Gershon E, Lemire E, Gnazzo M, Lepri FR, Marchese A, McEntagart M, McGaughran J, Mizuno S, Okamoto N, Rieubland C, Rodgers J, Sasaki E, Scalais E, Scurr I, Suri M, van der Burgt I, Matsumoto N, Miyake N, Benoit V, Lederer D, Banka S. Faundes V, et al. Among authors: goh s. Genet Med. 2021 Jul;23(7):1202-1210. doi: 10.1038/s41436-021-01119-8. Epub 2021 Mar 5. Genet Med. 2021. PMID: 33674768 Free PMC article.
SARS-CoV-2 infection in acute pancreatitis increases disease severity and 30-day mortality: COVID PAN collaborative study.
Pandanaboyana S, Moir J, Leeds JS, Oppong K, Kanwar A, Marzouk A, Belgaumkar A, Gupta A, Siriwardena AK, Haque AR, Awan A, Balakrishnan A, Rawashdeh A, Ivanov B, Parmar C, M Halloran C, Caruana C, Borg CM, Gomez D, Damaskos D, Karavias D, Finch G, Ebied H, K Pine J, R A Skipworth J, Milburn J, Latif J, Ratnam Apollos J, El Kafsi J, Windsor JA, Roberts K, Wang K, Ravi K, V Coats M, Hollyman M, Phillips M, Okocha M, Sj Wilson M, A Ameer N, Kumar N, Shah N, Lapolla P, Magee C, Al-Sarireh B, Lunevicius R, Benhmida R, Singhal R, Balachandra S, Demirli Atıcı S, Jaunoo S, Dwerryhouse S, Boyce T, Charalampakis V, Kanakala V, Abbas Z, Nayar M; COVID PAN collaborative group. Pandanaboyana S, et al. Gut. 2021 Jun;70(6):1061-1069. doi: 10.1136/gutjnl-2020-323364. Epub 2021 Feb 5. Gut. 2021. PMID: 33547182 Free PMC article.
SARS-CoV-2 infection is associated with an increased risk of idiopathic acute pancreatitis but not pancreatic exocrine insufficiency or diabetes: long-term results of the COVIDPAN study.
Nayar M, Varghese C, Kanwar A, Siriwardena AK, Haque AR, Awan A, Balakrishnan A, Rawashdeh A, Ivanov B, Parmar C, Halloran CM, Caruana C, Borg CM, Gomez D, Damaskos D, Karavias D, Finch G, Ebied H, Pine JK, Skipworth JRA, Milburn J, Latif J, Apollos J, El Kafsi J, Windsor JA, Roberts K, Wang K, Ravi K, Coats MV, Hollyman M, Phillips M, Okocha M, Wilson MS, Ameer NA, Kumar N, Shah N, Lapolla P, Magee C, Al-Sarireh B, Lunevicius R, Benhmida R, Singhal R, Balachandra S, Demirli Atıcı S, Jaunoo S, Dwerryhouse S, Boyce T, Charalampakis V, Kanakala V, Abbas Z, Tewari N, Pandanaboyana S; COVIDPAN Collborative Group; COVID Pain Collborative Group. Nayar M, et al. Gut. 2022 Jul;71(7):1444-1447. doi: 10.1136/gutjnl-2021-326218. Epub 2021 Nov 11. Gut. 2022. PMID: 34764192 No abstract available.
Genome organization around nuclear speckles drives mRNA splicing efficiency.
Bhat P, Chow A, Emert B, Ettlin O, Quinodoz SA, Strehle M, Takei Y, Burr A, Goronzy IN, Chen AW, Huang W, Ferrer JLM, Soehalim E, Goh ST, Chari T, Sullivan DK, Blanco MR, Guttman M. Bhat P, et al. Among authors: goh st. Nature. 2024 May 8. doi: 10.1038/s41586-024-07429-6. Online ahead of print. Nature. 2024. PMID: 38720076
Abatacept Pharmacokinetics and Exposure Response in Patients Hospitalized With COVID-19: A Secondary Analysis of the ACTIV-1 IM Randomized Clinical Trial.
Balevic SJ, Benjamin DK Jr, Powderly WG, Smith PB, Gonzalez D, McCarthy MW, Shaw LK, Lindsell CJ, Bozzette S, Williams D, Linas BP, Blamoun J, Javeri H, Hornik CP; ACTIV-1 IM Study Group. Balevic SJ, et al. JAMA Netw Open. 2024 Apr 1;7(4):e247615. doi: 10.1001/jamanetworkopen.2024.7615. JAMA Netw Open. 2024. PMID: 38662372 Free PMC article. Clinical Trial.
1,103 results