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 |
---|---|
2013 | 1 |
2014 | 1 |
2015 | 1 |
2016 | 1 |
2019 | 1 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform.
Eur J Med Genet. 2013 Dec;56(12):661-8. doi: 10.1016/j.ejmg.2013.09.003. Epub 2013 Sep 18.
Eur J Med Genet. 2013.
PMID: 24055526
Free article.
In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia.
Barbaro M, Soardi FC, Östberg LJ, Persson B, de Mello MP, Wedell A, Lajic S.
Barbaro M, et al.
Clin Endocrinol (Oxf). 2015 Jan;82(1):37-44. doi: 10.1111/cen.12526. Epub 2014 Jul 7.
Clin Endocrinol (Oxf). 2015.
PMID: 24953648
Item in Clipboard
Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects.
de Paula Michelatto D, Karlsson L, Lusa AL, Silva CD, Östberg LJ, Persson B, Guerra-Júnior G, de Lemos-Marini SH, Barbaro M, de Mello MP, Lajic S.
de Paula Michelatto D, et al.
Int J Endocrinol. 2016;2016:4209670. doi: 10.1155/2016/4209670. Epub 2016 Sep 19.
Int J Endocrinol. 2016.
PMID: 27721825
Free PMC article.
Item in Clipboard
Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.
Karlsson L, de Paula Michelatto D, Lusa ALG, D'Almeida Mgnani Silva C, Östberg LJ, Persson B, Guerra-Júnior G, Valente de Lemos-Marini SH, Baldazzi L, Menabó S, Balsamo A, Greggio NA, Palandi de Mello M, Barbaro M, Lajic S.
Karlsson L, et al.
Clin Biochem. 2019 Nov;73:50-56. doi: 10.1016/j.clinbiochem.2019.07.009. Epub 2019 Jul 22.
Clin Biochem. 2019.
PMID: 31344365
Item in Clipboard
Cite
Cite