Zobrazeno 1 - 10
of 85
pro vyhledávání: '"Philip J, Young"'
Publikováno v:
Journal of Genetic Counseling
As population‐level carrier screening panels for reprogenetic information emerge globally, conditions to be included, and the timing of implementation is widely debated. Thalassemia is the only condition for which population‐based prenatal carrie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d031730267a937389fc0239d0c56f50
http://wrap.warwick.ac.uk/132956/31/WRAP-social-cultural-influences-genetic-screening-programme-acceptability-Boardman-2020.pdf
http://wrap.warwick.ac.uk/132956/31/WRAP-social-cultural-influences-genetic-screening-programme-acceptability-Boardman-2020.pdf
Autor:
Samantha E. Brown-Xu, Ewan J. M. Hamilton, Judith C. Gallucci, Malcolm H. Chisholm, Changcheng Jiang, Philip J. Young, William T. Kender
Publikováno v:
Inorganic Chemistry. 56:9660-9668
The interligand charge dynamics of the lowest singlet metal-to-ligand charge-transfer states (1MLCT S1 states) of a series of quadruply bonded trans-Mo2(NN)2(O2C–X)2 paddlewheel compounds are investigated, where NN is a π-accepting phenylpropiolam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a4482257edf0c677f0741b36969ad76d
https://doi.org/10.1021/acs.inorgchem.7b01164
https://doi.org/10.1021/acs.inorgchem.7b01164
Publikováno v:
Health Expectations : An International Journal of Public Participation in Health Care and Health Policy
Purpose Autosomal recessive conditions, while individually rare, are a significant health burden with limited treatment options. Population carrier screening has been suggested as a means of tackling them. Little is known, however, about the attitude
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::827a0ab4bf335cb1284d9cd497e38182
http://europepmc.org/articles/PMC5750730
http://europepmc.org/articles/PMC5750730
Autor:
Judith C. Gallucci, Samantha E. Brown-Xu, Malcolm H. Chisholm, Philip J. Young, Changcheng Jiang
Publikováno v:
Inorganic Chemistry. 56:1433-1445
Four photophysically interesting dimolybdenum paddlewheel compounds are synthesized and characterized: I and II contain amide ligand (N,3-diphenyl-2-propynamide), and III and IV contain thioamide ligand (N,3-diphenyl-2-propynethioamide). I and III ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d1426313ed77184e15393c82ef4575a0
https://doi.org/10.1021/acs.inorgchem.6b02517
https://doi.org/10.1021/acs.inorgchem.6b02517
Publikováno v:
American Journal of Medical Genetics Part A. 173:421-434
Autosomal recessive conditions are a significant health burden with few treatments. Population carrier screening has been suggested as a means to tackle them. Little is known about the views of affected families despite the potential for direct impac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f12c4f1f902295bb750d9cf1e059d82
https://doi.org/10.1002/ajmg.a.38031
https://doi.org/10.1002/ajmg.a.38031
Autor:
Christopher B. Durr, Philip J. Young, Changcheng Jiang, Thomas F. Spilker, Malcolm H. Chisholm
Publikováno v:
Inorganic Chemistry. 55:5836-5844
Two dimolybdenum compounds featuring amidinate ligands with a C≡C bond, Mo2(NN)4 (I), where NN = N,N′-diphenylphenylpropiolamidinate, and trans-Mo2(NN)2(TiPB)2 (II), where TiPB = 2,4,6-triisopropylbenzoate, have been prepared and structurally cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba765fc330ab98ef1a8da053fdb780d3
https://doi.org/10.1021/acs.inorgchem.6b00096
https://doi.org/10.1021/acs.inorgchem.6b00096
Publikováno v:
Haemophilia
Introduction As genomic sequencing become more efficient and cost‐effective, the number of conditions identified through newborn screening globally is set to dramatically increase. Haemophilia is a candidate condition; however, very little is known
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::677b3f734d82cbb52ff35b98b958ec64
https://pubmed.ncbi.nlm.nih.gov/30817064
https://pubmed.ncbi.nlm.nih.gov/30817064
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Genomic sequencing technologies have made the possibility of population screening for whole panels of genetic disorders more feasible than ever before. As one of the most common single gene disorders affecting the UK population, hemophilia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::87cc687d0655303f11b240115679170d
https://pubmed.ncbi.nlm.nih.gov/30838796
https://pubmed.ncbi.nlm.nih.gov/30838796
Autor:
Malcolm H. Chisholm, Thomas F. Spilker, Christopher B. Durr, Philip J. Young, Terry L. Gustafson, William T. Kender
Publikováno v:
Journal of the American Chemical Society. 137:5155-5162
From the reactions between Mo2(TiPB)4, where TiPB is 2,4,6-triisopropylbenzoate, and 2 equiv of the acids 4-formylbenzoic acid, HBzald; 4-(3-oxo-3-phenylpropanoyl)benzoic acid, HAvo; and 4-(2,2-difluoro-6-phenyl-2H-1λ3,3,2λ4-dioxaborinin-4-yl)benzo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db627da4563a09a45527fffdc927c236
https://doi.org/10.1021/jacs.5b01495
https://doi.org/10.1021/jacs.5b01495
Publikováno v:
Human Molecular Genetics. 24:2138-2146
The spliceosome plays a fundamental role in RNA metabolism by facilitating pre-RNA splicing. To understand how this essential complex is formed, we have used protein crystallography to determine the first complete structures of the key assembler prot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::64073c00bec48b96c53bceafe711406a
https://doi.org/10.1093/hmg/ddu734
https://doi.org/10.1093/hmg/ddu734