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
Search Results
6 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Aberrant Splicing of INS Impairs Beta-Cell Differentiation and Proliferation by ER Stress in the Isogenic iPSC Model of Neonatal Diabetes.
Int J Mol Sci. 2022 Aug 8;23(15):8824. doi: 10.3390/ijms23158824.
Int J Mol Sci. 2022.
PMID: 35955956
Free PMC article.
Early transition to sulfonylurea therapy in infant with DEND syndrome due to F132L ABCC8 mutation.
Tikhonovich Y, Petryaykina E, Zubkova N, Garyaeva I, Tiulpakov A.
Tikhonovich Y, et al.
Acta Diabetol. 2022 Sep;59(9):1251-1253. doi: 10.1007/s00592-022-01904-0. Epub 2022 Jun 1.
Acta Diabetol. 2022.
PMID: 35648253
No abstract available.
Item in Clipboard
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
Hussain I, Patni N, Ueda M, Sorkina E, Valerio CM, Cochran E, Brown RJ, Peeden J, Tikhonovich Y, Tiulpakov A, Stender SRS, Klouda E, Tayeh MK, Innis JW, Meyer A, Lal P, Godoy-Matos AF, Teles MG, Adams-Huet B, Rader DJ, Hegele RA, Oral EA, Garg A.
Hussain I, et al.
J Clin Endocrinol Metab. 2018 Mar 1;103(3):1005-1014. doi: 10.1210/jc.2017-02078.
J Clin Endocrinol Metab. 2018.
PMID: 29267953
Free PMC article.
Item in Clipboard
[Wiedemann-Rautenstrauch syndrome. The first description of a clinical case in the Russian Federation].
Kungurtseva AL, Popovich AV, Tikhonovich YV, Vitebskaya AV.
Kungurtseva AL, et al. Among authors: tikhonovich yv.
Probl Endokrinol (Mosk). 2023 Oct 8;70(2):86-93. doi: 10.14341/probl13369.
Probl Endokrinol (Mosk). 2023.
PMID: 38796765
Free PMC article.
Russian.
Item in Clipboard
The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.
Kovalskaia VA, Kungurtseva AL, Bostanova FM, Vasiliev PA, Tabakov VY, Orlova MD, Povolotskaya IS, Novoselova OG, Bikanov RA, Akhyamova MA, Tikhonovich YV, Popovich AV, Vitebskaya AV, Dadali EL, Ryzhkova OP.
Kovalskaia VA, et al. Among authors: tikhonovich yv.
Genes (Basel). 2024 Jan 29;15(2):180. doi: 10.3390/genes15020180.
Genes (Basel). 2024.
PMID: 38397171
Free PMC article.
Item in Clipboard
[Endocrine disorders in patients with transfusion-dependent hereditary anemias].
Vitebskaya AV, Bugakova ES, Pisareva EA, Tikhonovich YV.
Vitebskaya AV, et al. Among authors: tikhonovich yv.
Probl Endokrinol (Mosk). 2022 Jul 27;68(6):121-130. doi: 10.14341/probl13149.
Probl Endokrinol (Mosk). 2022.
PMID: 36689717
Free PMC article.
Russian.
Item in Clipboard
Cite
Cite