Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2017 | 1 |
2018 | 2 |
2019 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Page 1
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.
Genet Med. 2019 Apr;21(4):982-986. doi: 10.1038/s41436-018-0281-4. Epub 2018 Oct 3.
Genet Med. 2019.
PMID: 30279471
Free PMC article.
Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, Oh V, Petz O, Caswell R, Ellard S, Urano F, Hattersley AT.
De Franco E, et al.
Diabetes. 2017 Jul;66(7):2044-2053. doi: 10.2337/db16-1296. Epub 2017 May 3.
Diabetes. 2017.
PMID: 28468959
Free PMC article.
Item in Clipboard
A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin.
Shepherd MH, Shields BM, Hudson M, Pearson ER, Hyde C, Ellard S, Hattersley AT, Patel KA; UNITED study.
Shepherd MH, et al.
Diabetologia. 2018 Dec;61(12):2520-2527. doi: 10.1007/s00125-018-4728-6. Epub 2018 Sep 18.
Diabetologia. 2018.
PMID: 30229274
Free PMC article.
Item in Clipboard
Cite
Cite
ARTICLE TYPE
ARTICLE LANGUAGE
AGE
Filters on the sidebar will be reset to the default list and any currently applied filters will be cleared.