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
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet. 2022 Apr 7;109(4):750-758. doi: 10.1016/j.ajhg.2022.02.003. Epub 2022 Feb 23.
Am J Hum Genet. 2022.
PMID: 35202563
Free PMC article.
Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.
Paff T, Kooi IE, Moutaouakil Y, Riesebos E, Sistermans EA, Daniels HJMA, Weiss JMM, Niessen HHWM, Haarman EG, Pals G, Micha D.
Paff T, et al. Among authors: weiss jmm.
Hum Mutat. 2018 May;39(5):653-665. doi: 10.1002/humu.23403. Epub 2018 Mar 9.
Hum Mutat. 2018.
PMID: 29363216
Item in Clipboard
Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome.
Mazzeu JF, Krepischi-Santos AC, Rosenberg C, Szuhai K, Knijnenburg J, Weiss JM, Kerkis I, Mustacchi Z, Colin G, Mombach R, Pavanello Rde C, Otto PA, Vianna-Morgante AM.
Mazzeu JF, et al.
Am J Med Genet A. 2007 Aug 1;143A(15):1790-5. doi: 10.1002/ajmg.a.31661.
Am J Med Genet A. 2007.
PMID: 17603805
No abstract available.
Item in Clipboard
Cite
Cite