Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Bronwyn Culling"'
Autor:
Dianne Petrie, Kristine Barlow-Stewart, Catherine Speechly, Jane Fleming, Yemima Berman, Rachael Stenhouse, Bronwyn Culling
Publikováno v:
Journal of Genetic Counseling. 30:1440-1451
The Genetic Information System (GIS) is an Australian database of family genetic information. This health information technology system has been used by all 31 publicly operated clinical genetics services across New South Wales (NSW) and the Australi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c4e03815f4edf59ac985f5a81b86bd5
https://doi.org/10.1002/jgc4.1412
https://doi.org/10.1002/jgc4.1412
Autor:
Bronwyn Culling, Robert Ogle
Publikováno v:
Paediatric Respiratory Reviews. 11:75-79
Cystic fibrosis is a chronic condition for which genetic testing offers much for the individuals affected in terms of an early diagnosis and offers timely additional information for families with regard to family planning and prenatal testing. Geneti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::347cb4635ae9ed33949ff8b1f5f6427a
https://doi.org/10.1016/j.prrv.2010.01.001
https://doi.org/10.1016/j.prrv.2010.01.001
Autor:
Simon T. Cliffe, George Elakis, Meredith Wilson, Bronwyn Culling, Michael F. Buckley, Paul A. James, David M. Mowat, Melody Caramins, Peter J. Anderson, Mark A. Jenkins, Tony Roscioli, Ravi Savarirayan, Glenda L. Mullan, Anne M. Turner, Katherine L. Tucker
Publikováno v:
Genes, Chromosomes & Cancer, 48, 7, pp. 533-8
Genes, Chromosomes & Cancer, 48, 533-8
Genes, Chromosomes & Cancer, 48, 533-8
Contains fulltext : 79485.pdf (Publisher’s version ) (Closed access) Saethre-Chotzen syndrome (SCS) is a rare autosomal dominant syndrome involving craniosynostosis, craniofacial abnormalities, and syndactyly. A recent Scandinavian study reported a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c598feddb73e1d3083f1e07bc432621
https://doi.org/10.1002/gcc.20661
https://doi.org/10.1002/gcc.20661
Autor:
Matthew Fawkner, Ingrid Winship, Bronwyn Culling, Donald R. Love, Madhuri R. Hegde, Belinda Chong, Jenny Leary, Andrew N. Shelling
Publikováno v:
Human Mutation. 16:422-430
The identification of mutations in the BRCA1 gene poses difficulties in achieving a screening outcome that satisfies the twin needs of speed and accuracy. These needs must also take into account the patient's family history and the statistical evalua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd16ea61191a7680e93d3dd834c247bd
https://doi.org/10.1002/1098-1004(200011)16:5<422::aid-humu7>3.0.co
https://doi.org/10.1002/1098-1004(200011)16:5<422::aid-humu7>3.0.co