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Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes

Publikováno v: Wyrwoll, M J, van Walree, E S, Hamer, G, Rotte, N, Motazacker, M M, Meijers-Heijboer, H, Alders, M, Meißner, A, Kaminsky, E, Wöste, M, Krallmann, C, Kliesch, S, Hunt, T J, Clark, A T, Silber, S, Stallmeyer, B, Friedrich, C, van Pelt, A M M, Mathijssen, I B & Tüttelmann, F 2021, ' Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes ', Human reproduction (Oxford, England), vol. 37, no. 1, pp. 178-189 . https://doi.org/10.1093/humrep/deab230
Human reproduction (Oxford, England), 37(1), 178-189. Oxford University Press

STUDY QUESTION Do bi-allelic variants in the genes encoding the MSH4/MSH5 heterodimer cause male infertility? SUMMARY ANSWER We detected biallelic, (likely) pathogenic variants in MSH5 (4 men) and MSH4 (3 men) in six azoospermic men, demonstrating th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dddf7324047cfe3851c72bbb2a1a1944
https://pubmed.ncbi.nlm.nih.gov/34755185

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Anosov parameter values for the triple linkage and a physical system with a uniformly chaotic attractor

Autor: Robert S. MacKay, T J Hunt

Publikováno v: Nonlinearity. 16:1499-1510

First, the free frictionless dynamics of the triple linkage of Thurston and Weeks is proved to be Anosov on each positive energy level for a non-empty open set of parameter values. Second, in the presence of weak friction and any smooth potential, an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::86e8c880dcb04ca068c8e5c19271ef79
https://doi.org/10.1088/0951-7715/16/4/318

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Leveraging the leader-member exchange theory in HIM

Autor: T J, Hunt

Publikováno v: Journal of AHIMA. 85(8)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fa0066f2b6f509a2486202a6617ec80d
https://pubmed.ncbi.nlm.nih.gov/25199362

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Leader-member exchange relationships in health information management

Autor: T J, Hunt

Publikováno v: Perspectives in health information management. 11

This article seeks to raise awareness of the leader-member exchange (LMX) theory of leadership and its potential benefit to the health information management (HIM) profession. A literature review that was conducted identified a leadership challenge f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e487691907e3b53e1de26448152244ec
https://pubmed.ncbi.nlm.nih.gov/24808805

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Evaluating the potential effectiveness of using computerized information systems to prevent adverse drug events

Autor: J G, Anderson, S J, Jay, M, Anderson, T J, Hunt

Publikováno v: Proceedings : a conference of the American Medical Informatics Association. AMIA Fall Symposium.

In this study a dynamic computer simulation model is used to estimate the effectiveness of various information systems applications designed to detect and prevent medication errors that result in adverse drug events (ADEs). The model simulates the fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::46c1e55d77a1e9ba7067484f02b9baa1
https://pubmed.ncbi.nlm.nih.gov/9357622

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Skeletal fixation: a review

Autor: C T, Vangsness, T J, Hunt

Publikováno v: Bulletin (Hospital for Joint Diseases (New York, N.Y.)). 52(2)

While improvements in surgical techniques and recent trends toward early surgery and patient mobilization have led to skeletal traction being utilized more sparingly, it continues to be a basic skill required by the orthopaedic surgeon. The most comm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4cd2415d756a3b6e32b84af024c13363
https://pubmed.ncbi.nlm.nih.gov/8443555

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