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 | 1 |
2024 | 0 |
Search Results
2 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
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
Eur J Hum Genet. 2023 Apr;31(4):474-478. doi: 10.1038/s41431-022-01270-z. Epub 2022 Dec 19.
Eur J Hum Genet. 2023.
PMID: 36529819
Free PMC article.
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2?
Di Giosaffatte N, Ferraris A, Gaudioso F, Lodato V, Savino E, Celletti C, Camerota F, Bargiacchi S, Laino L, Majore S, Bottillo I, Grammatico P.
Di Giosaffatte N, et al. Among authors: savino e.
Genes (Basel). 2022 Dec 14;13(12):2358. doi: 10.3390/genes13122358.
Genes (Basel). 2022.
PMID: 36553625
Free PMC article.
Item in Clipboard
Cite
Cite