Zobrazeno 1 - 10
of 58
pro vyhledávání: '"D.R. Goudie"'
Autor:
D.U. Baty, D.R. Goudie, C.J.H. Kelnar, C.D. Oxley, Syed Faisal Ahmed, W. Lam, R. Rashid, G. Stranks
Publikováno v:
Hormone Research in Paediatrics. 69:221-226
Introduction: There is a scarcity of data on height as well as bone densitometry in humans with NOGGIN mutations. Methods: In 2 families with symphalangism, anthropometry, bone densitometry and genetic analysis of the NOGGIN gene were performed. Resu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::63b13d931973c5c19695e17c9d5c365c
https://doi.org/10.1159/000113022
https://doi.org/10.1159/000113022
Autor:
M.E. Sharp, D.R. Goudie
Publikováno v:
All Days.
Given the social and political climates surrounding the oil and natural gas industry in North America, and more specifically hydraulic fracturing, the health, safety and education of the public and employees of operating companies is paramount. The t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61679583202b76372cbe4d797fd50d6b
https://doi.org/10.2118/169569-ms
https://doi.org/10.2118/169569-ms
Akademický článek
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Autor:
Karen Woodward, Jonathan Wolfe, Ellen Solomon, D.R. Goudie, Susan Povey, K. A. Jones, Jude Fitzgibbon, Malcolm A. Ferguson-Smith
Publikováno v:
Annals of Human Genetics. 57:195-201
The retinoid X receptor α is one of a number of retinoic acid receptors which are members of the steroid/thyroid hormone superfamily. Localization of RXRA was achieved using the polymerase chain reaction on a panel of somatic cell hybrids. A cosmid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::506b4c51a8884c4de7f2a566952bb4c9
https://doi.org/10.1111/j.1469-1809.1993.tb01595.x
https://doi.org/10.1111/j.1469-1809.1993.tb01595.x
Autor:
Malcolm A. Ferguson-Smith, D.R. Goudie, R.M. Harris, John R.W. Yates, B. Griffiths, R.M. Hampson, Nabeel A. Affara, Nigel P. Carter
Publikováno v:
Genomics. 15:265-274
Pulsed-field gel electrophoresis and flow dot-blot analysis have been used to construct a physical map of the q32-q34 region of chromosome 9, where one of the loci responsible for tuberous sclerosis (TSC1) has been mapped by genetic linkage. Five lin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af9a28612dda577f475c358b01602f15
https://doi.org/10.1006/geno.1993.1056
https://doi.org/10.1006/geno.1993.1056
Autor:
M.A. Leversha, Martin A.R. Yuille, Robert A. Furlong, D.R. Goudie, Nabeel A. Affara, Malcolm A. Ferguson-Smith, Michael Lush, Nigel P. Carter
Publikováno v:
Nature Genetics. 3:165-169
A gene (ESS1) predisposing to the development of multiple invasive but self-healing skin tumours (squamous cell epitheliomata) is tightly linked to the polymorphic DNA marker D9S53 (9q31) with a maximum lod score of 9.02 at a recombination fraction o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::301f088241c76ac6c6e0a0a479443920
https://doi.org/10.1038/ng0293-165
https://doi.org/10.1038/ng0293-165
Autor:
David J. Kwiatkowski, John A.L. Armour, Margaret A. Knowles, D.R. Goudie, Alison Pilz, Susan A. Slaugenhaupt, Jonathan L. Haines, Allen E. Bale, Sue Povey, Jane W. Fountain
Publikováno v:
Cytogenetic and Genome Research. 64:93-121
The Second International Workshop on Human Chromosome 9 was held in Chatham, Massachusetts on April 18--20, 1993. Fifty-three abstracts were received and the data presented on posters. The purpose of the meeting was to bring together all interested i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::afe38c66048c3017464a61eab1a33092
https://doi.org/10.1159/000133566
https://doi.org/10.1159/000133566
Publikováno v:
The British journal of dermatology. 157(5)
Erythropoietic protoporphyria (EPP) is an inherited disorder of haem biosynthesis caused by decreased activity of the enzyme ferrochelatase (FECH), which catalyses the insertion of iron into protoporphyrin, the last step in haem biosynthesis. Develop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49d52920f3122e3e5eb7e2509c072dbb
https://pubmed.ncbi.nlm.nih.gov/17711525
https://pubmed.ncbi.nlm.nih.gov/17711525
