Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Diana Scotcher"'
Autor:
Diana Scotcher, Andrew A. M. Morris, Jill E. Urquhart, Anne P. Ferguson, Jill Clayton-Smith, Arunabha Ghosh, Sarah B. Daly
Publikováno v:
Ghosh, A, Urquhart, J, Daly, S, Ferguson, A P, Scotcher, D, Morris, A AM & Clayton-Smith, J 2017, ' Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A ', Journal of child neurology, vol. 32, no. 6, pp. 560-565 . https://doi.org/10.1177/0883073817696816
STT3A encodes the catalytic subunit of the oligosaccharyltransferase complex. A congenital disorder of glycosylation caused by mutations in STT3A has only been reported in one family to date, associated with a Type I congenital disorder of glycosylat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::269df506005b632bc75d20e8ac55c3b2
https://doi.org/10.1177/0883073817696816
https://doi.org/10.1177/0883073817696816
Autor:
Marianne Lodahl, Ramona Moldovan, Kunal Sanghavi, Jenna Scott, Deborah M. Lambert, Janice G. Edwards, Anna Middleton, Charlotta Ingvoldstad Malmgren, Ivan Macciocca, Eliza Courtney, Sook-Yee Yoon, Joanne Ngeow, Milena Paneque, Diana Scotcher, Lian-Hua Huang, Hyon J. Kim, Shelley Macaulay, Sahil Kejriwal, Juliana M. H. Lee, Paulina Araceli Lantigua-Cruz, Lamia Alsubaie, Emeline Davoine, Kristine Barlow-Stewart, Kate Gardiner, Christophe Cordier, Beppy Caanen, Åshild Lunde, Tina-Marié Wessels, Sonia Margarit, Yue Guan, Mary Ann R. Abacan, Kelly E. Ormond, Clara Serra Juhé, Alexandra J Obregón-Tito, Catherine Wicklund, Niby J. Elackatt, Shiri Shkedi-Rafid, Karen P. Powell
Publikováno v:
Abacan, M, Alsubaie, L, Barlow-stewart, K, Caanen, B, Cordier, C, Courtney, E, Davoine, E, Edwards, J, Elackatt, N J, Gardiner, K, Guan, Y, Huang, L, Malmgren, C I, Kejriwal, S, Kim, H J, Lambert, D, Lantigua-cruz, P A, Lee, J M H, Lodahl, M, Lunde, Å, Macaulay, S, Macciocca, I, Margarit, S, Middleton, A, Moldovan, R, Ngeow, J, Obregon-tito, A J, Ormond, K E, Paneque, M, Powell, K, Sanghavi, K, Scotcher, D, Scott, J, Juhé, C S, Shkedi-rafid, S, Wessels, T, Yoon, S & Wicklund, C 2018, ' The Global State of the Genetic Counseling Profession ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-018-0252-x
Recercat. Dipósit de la Recerca de Catalunya
instname
Recercat. Dipósit de la Recerca de Catalunya
instname
The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers describing the profession o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbee5da386693076b342301e65f343ed
http://hdl.handle.net/10230/37123
http://hdl.handle.net/10230/37123
Autor:
Diana Scotcher, Peter Marks, Claire Giffney, Laura Boyes, Anna Middleton, Sue Kenwrick, Oonagh Claber, Liwsi K Protheroe-Davies, Anita Bruce, Georgina Hall, Claire Dolling, Rhona MacLeod, Cath King, Christine Patch, Catherine Houghton
Publikováno v:
European Journal of Human Genetics
In the United Kingdom, genetic counsellors work together with clinical geneticists and clinical scientist colleagues within specialist genetics services, but they also often work in multidisciplinary teams (MDTs) outside of such services. There, they
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::865f393065b0bd4d52336b2a938cd0c2
http://europepmc.org/articles/PMC5518913
http://europepmc.org/articles/PMC5518913
Autor:
Theresa Roberts, Rupinder Jassi, Marion McAllister, Diana Scotcher, Richard Sayers, William Beckett, Jessica Myring
Publikováno v:
Journal of genetic counseling. 20(4)
Cystic fibrosis (CF) is the most common recessive condition affecting the White British population. Facilitating reproductive decision making for couples at genetic risk for CF is an important aspect of genetic counseling practice in the UK. The purp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecfec7b9ecde36287ed7a5f49868bdce
https://pubmed.ncbi.nlm.nih.gov/21732237
https://pubmed.ncbi.nlm.nih.gov/21732237