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
2 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.
Eur J Med Genet. 2021 Oct;64(10):104310. doi: 10.1016/j.ejmg.2021.104310. Epub 2021 Aug 13.
Eur J Med Genet. 2021.
PMID: 34400370
Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
Gönenc II, Elcioglu NH, Martinez Grijalva C, Aras S, Großmann N, Praulich I, Altmüller J, Kaulfuß S, Li Y, Nürnberg P, Burfeind P, Yigit G, Wollnik B.
Gönenc II, et al. Among authors: martinez grijalva c.
Clin Genet. 2022 May;101(5-6):559-564. doi: 10.1111/cge.14125. Epub 2022 Mar 11.
Clin Genet. 2022.
PMID: 35218564
Item in Clipboard
Cite
Cite