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
3 results
Filters applied: . Clear all
Page 1
Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature review.
Clin Epigenetics. 2024 Jun 5;16(1):73. doi: 10.1186/s13148-024-01688-w.
Clin Epigenetics. 2024.
PMID: 38840187
Free PMC article.
Review.
Effective calcineurin inhibitor treatment in adult-onset steroid-resistant nephrotic syndrome with a novel splice donor site variant of TRPC6: a case report.
Nagasaka T, Uchiyama K, Hama EY, Kojima D, Kaneko K, Yoshimoto N, Yasuda I, Yamada M, Miya F, Suzuki H, Tajima T, Yamaguchi S, Hayashi K, Kanda T, Hashiguchi A, Kosaki K, Itoh H.
Nagasaka T, et al.
CEN Case Rep. 2024 Sep 30. doi: 10.1007/s13730-024-00935-6. Online ahead of print.
CEN Case Rep. 2024.
PMID: 39349897
Free article.
Item in Clipboard
A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional Analysis.
Masuko S, Sato M, Nakamura K, Hamanaka K, Miyatake S, Inaba Y, Kosho T, Matsumoto N, Sekijima Y.
Masuko S, et al.
Mol Genet Genomic Med. 2024 Nov;12(11):e70044. doi: 10.1002/mgg3.70044.
Mol Genet Genomic Med. 2024.
PMID: 39587727
Free 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.