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5,102 results

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Page 1
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB; Undiagnosed Diseases Network; Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. Kumble S, et al. Among authors: robinson s. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11. Hum Mutat. 2022. PMID: 34859529 Free article.
COVID-19's Impact on Genetics at One Medical Center in New York.
Pereira EM; Columbia University Clinical Genetics Professionals; Chung WK. Pereira EM, et al. Genet Med. 2020 Sep;22(9):1467-1469. doi: 10.1038/s41436-020-0857-7. Epub 2020 Jun 5. Genet Med. 2020. PMID: 32499605 Free PMC article. No abstract available.
Clinical and genomic characterization of 8p cytogenomic disorders.
Okur V, Hamm L, Kavus H, Mebane C, Robinson S, Levy B, Chung WK. Okur V, et al. Among authors: robinson s. Genet Med. 2021 Dec;23(12):2342-2351. doi: 10.1038/s41436-021-01270-2. Epub 2021 Jul 19. Genet Med. 2021. PMID: 34282301 Free article.
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.
Griffin EL, Nees SN, Morton SU, Wynn J, Patel N, Jobanputra V, Robinson S, Kochav SM, Tao A, Andrews C, Cross N, Geva J, Lanzilotta K, Ritter A, Taillie E, Thompson A, Meyer C, Akers R, King EC, Cnota JF, Kim RW, Porter GA Jr, Brueckner M, Seidman CE, Shen Y, Gelb BD, Goldmuntz E, Newburger JW, Roberts AE, Chung WK. Griffin EL, et al. Among authors: robinson s. Circ Genom Precis Med. 2023 Apr;16(2):e003791. doi: 10.1161/CIRCGEN.122.003791. Epub 2023 Feb 21. Circ Genom Precis Med. 2023. PMID: 36803080 Free PMC article.
Estimating the cost of chronic kidney disease in Australia.
Randall S, Lee CMY, Thomas E, Chakera A, Chai KEK, Varhol R, Mehta K, Irish A, Conradie J, Hadlow N, Hendrie D, Boyd JH, Robinson S. Randall S, et al. Among authors: robinson s. BMC Health Serv Res. 2024 Nov 26;24(1):1468. doi: 10.1186/s12913-024-11953-6. BMC Health Serv Res. 2024. PMID: 39593044 Free PMC article.
A prescription for engineering PFAS biodegradation.
Wackett LP, Robinson SL. Wackett LP, et al. Among authors: robinson sl. Biochem J. 2024 Dec 4;481(23):1757-1770. doi: 10.1042/BCJ20240283. Biochem J. 2024. PMID: 39585294 Review.
Adaptive trade-offs between vertebrate defence and insect predation drive Amazonian ant venom evolution.
Touchard A, Robinson SD, Lalagüe H, Ascoët S, Billet A, Dejean A, Téné NJ, Petitclerc F, Troispoux V, Treilhou M, Bonnafé E, Vetter I, Vizueta J, Moreau CS, Orivel J, Tysklind N. Touchard A, et al. Among authors: robinson sd. Proc Biol Sci. 2024 Nov;291(2035):20242184. doi: 10.1098/rspb.2024.2184. Epub 2024 Nov 20. Proc Biol Sci. 2024. PMID: 39561794
Long-Term outcomes after stress echocardiography in real world practice: five-year follow-up of the UK Evarest study.
Woodward W, Johnson CL, Krasner S, O'Driscoll J, McCourt A, Dockerill C, Balkhausen K, Chandrasekaran B, Firoozan S, Kardos A, Sabharwal N, Sarwar R, Senior R, Sharma R, Wong K, Augustine DX, Leeson P; EVAREST Investigators. Woodward W, et al. Eur Heart J Cardiovasc Imaging. 2024 Nov 12:jeae291. doi: 10.1093/ehjci/jeae291. Online ahead of print. Eur Heart J Cardiovasc Imaging. 2024. PMID: 39531637
5,102 results