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
4 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey.
Eur J Med Genet. 2023 Jul;66(7):104771. doi: 10.1016/j.ejmg.2023.104771. Epub 2023 Apr 28.
Eur J Med Genet. 2023.
PMID: 37120079
Free article.
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.
van Eeghen AM, Stemkens D, Fernández-Fructuoso JR, Maruani A, Hadzsiev K; ERN ITHACA Guideline Working Group; European Phelan-McDermid syndrome guideline consortium; van Balkom IDC.
van Eeghen AM, et al.
Eur J Med Genet. 2023 Jul;66(7):104747. doi: 10.1016/j.ejmg.2023.104747. Epub 2023 Mar 30.
Eur J Med Genet. 2023.
PMID: 37003574
Free article.
Item in Clipboard
Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome.
Walinga M, Jesse S, Alhambra N; European Phelan-McDermid syndrome consortium; Van Buggenhout G.
Walinga M, et al.
Eur J Med Genet. 2023 May;66(5):104726. doi: 10.1016/j.ejmg.2023.104726. Epub 2023 Feb 14.
Eur J Med Genet. 2023.
PMID: 36796507
Free article.
Review.
Item in Clipboard
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.
Lowther C, Speevak M, Armour CM, Goh ES, Graham GE, Li C, Zeesman S, Nowaczyk MJ, Schultz LA, Morra A, Nicolson R, Bikangaga P, Samdup D, Zaazou M, Boyd K, Jung JH, Siu V, Rajguru M, Goobie S, Tarnopolsky MA, Prasad C, Dick PT, Hussain AS, Walinga M, Reijenga RG, Gazzellone M, Lionel AC, Marshall CR, Scherer SW, Stavropoulos DJ, McCready E, Bassett AS.
Lowther C, et al. Among authors: walinga m.
Genet Med. 2017 Jan;19(1):53-61. doi: 10.1038/gim.2016.54. Epub 2016 May 19.
Genet Med. 2017.
PMID: 27195815
Free PMC article.
Item in Clipboard
Cite
Cite