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732 results

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Page 1
Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact.
Wynn J, Ottman R, Duong J, Wilson AL, Ahimaz P, Martinez J, Rabin R, Rosen E, Webster R, Au C, Cho MT, Egan C, Guzman E, Primiano M, Shaw JE, Sisson R, Klitzman RL, Appelbaum PS, Lichter-Konecki U, Anyane-Yeboa K, Iglesias A, Chung WK. Wynn J, et al. Among authors: shaw je. Clin Genet. 2018 May;93(5):1039-1048. doi: 10.1111/cge.13200. Epub 2018 Mar 13. Clin Genet. 2018. PMID: 29266212 Free PMC article.
Impact of patient education videos on genetic counseling outcomes after exome sequencing.
Hernan R, Cho MT, Wilson AL, Ahimaz P, Au C, Berger SM, Guzman E, Primiano M, Shaw JE, Ross M, Tabanfar L, Chilton I, Griffin E, Ratner C, Anyane-Yeboa K, Iglesias A, Pisani L, Roohi J, Duong J, Martinez J, Appelbaum P, Klitzman R, Ottman R, Chung WK, Wynn J. Hernan R, et al. Among authors: shaw je. Patient Educ Couns. 2020 Jan;103(1):127-135. doi: 10.1016/j.pec.2019.08.018. Epub 2019 Aug 24. Patient Educ Couns. 2020. PMID: 31521424 Free PMC article. Clinical Trial.
Defining the phenotypic spectrum of SLC6A1 mutations.
Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS. Johannesen KM, et al. Among authors: shaw je. Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8. Epilepsia. 2018. PMID: 29315614 Free PMC article.
Trends in the incidence of young-adult-onset diabetes by diabetes type: a multi-national population-based study from an international diabetes consortium.
Magliano DJ, Chen L, Morton JI, Salim A, Carstensen B, Gregg EW, Pavkov ME, Arffman M, Colhoun HM, Ha KH, Imamura T, Jermendy G, Kim DJ, Kiss Z, Mauricio D, McGurnaghan SJ, Nishioka Y, Wild SH, Winell K, Shaw JE. Magliano DJ, et al. Among authors: shaw je. Lancet Diabetes Endocrinol. 2024 Dec;12(12):915-923. doi: 10.1016/S2213-8587(24)00243-2. Epub 2024 Nov 11. Lancet Diabetes Endocrinol. 2024. PMID: 39541997
A single risk assessment for the most common diseases of ageing, developed and validated on 10 cohort studies.
Huque MH, Kootar S, Kiely KM, Anderson CS, van Boxtel M, Brodaty H, Sachdev PS, Carlson M, Fitzpatrick AL, Whitmer RA, Kivipelto M, Jorm L, Köhler S, Lautenschlager NT, Lopez OL, Shaw JE, Matthews FE, Peters R, Anstey KJ. Huque MH, et al. Among authors: shaw je. BMC Med. 2024 Oct 31;22(1):501. doi: 10.1186/s12916-024-03711-6. BMC Med. 2024. PMID: 39482675 Free PMC article.
The epidemiology of type 1 diabetes mellitus in older adults.
Tomic D, Harding JL, Jenkins AJ, Shaw JE, Magliano DJ. Tomic D, et al. Among authors: shaw je. Nat Rev Endocrinol. 2024 Oct 24. doi: 10.1038/s41574-024-01046-z. Online ahead of print. Nat Rev Endocrinol. 2024. PMID: 39448829 Review.
732 results