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 |
---|---|
2022 | 2 |
2023 | 2 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
It looks like you are searching for an author.
Results are currently sorted by Best Match. To see the newest results first,
change the sort order to Most Recent.
Page 1
Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS).
Genes (Basel). 2023 Aug 3;14(8):1581. doi: 10.3390/genes14081581.
Genes (Basel). 2023.
PMID: 37628632
Free PMC article.
Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome.
Sofronova V, Iwata R, Moriya T, Loskutova K, Gurinova E, Chernova M, Timofeeva A, Shvedova A, Vasilev F, Novgorodova S, Terawaki S, Moriwaki T, Sukhomyasova A, Maksimova N, Otomo T.
Sofronova V, et al.
Int J Mol Sci. 2022 May 23;23(10):5851. doi: 10.3390/ijms23105851.
Int J Mol Sci. 2022.
PMID: 35628659
Free PMC article.
Item in Clipboard
A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines.
Sofronova V, Gurinova E, Petukhova D, Fukamatsu H, Yamamoto T, Aoyama Y, Golikova P, Moskvitin G, Ivanova R, Savvina M, Vasilev F, Moriwaki T, Terawaki S, Sukhomyasova A, Maksimova N, Otomo T.
Sofronova V, et al.
Int J Mol Sci. 2023 Mar 15;24(6):5647. doi: 10.3390/ijms24065647.
Int J Mol Sci. 2023.
PMID: 36982718
Free PMC article.
Item in Clipboard
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.
Sofronova V, Fukushima Y, Masuno M, Naka M, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Moriwaki T, Iwata R, Terawaki S, Yamanouchi Y, Otomo T.
Sofronova V, et al.
Hum Genome Var. 2022 Jul 25;9(1):26. doi: 10.1038/s41439-022-00203-y.
Hum Genome Var. 2022.
PMID: 35879281
Free PMC article.
Item in Clipboard
Cite
Cite