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
5 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Am J Hum Genet. 2021 Jan 7;108(1):115-133. doi: 10.1016/j.ajhg.2020.11.015. Epub 2020 Dec 11.
Am J Hum Genet. 2021.
PMID: 33308444
Free PMC article.
The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.
Al-Sannaa NA, Al-Abdulwahed HY, Al-Majed SI, Bouholaigah IH.
Al-Sannaa NA, et al. Among authors: al abdulwahed hy.
J Community Genet. 2018 Jan;9(1):65-70. doi: 10.1007/s12687-017-0329-1. Epub 2017 Sep 15.
J Community Genet. 2018.
PMID: 28914427
Free PMC article.
Item in Clipboard
Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance.
Al-Dawsari N, Al-Mokhadam A, Al-Abdulwahed H, Al-Sannaa N.
Al-Dawsari N, et al. Among authors: al abdulwahed h.
J Cutan Med Surg. 2015 Nov-Dec;19(6):595-9. doi: 10.1177/1203475415588659. Epub 2015 May 29.
J Cutan Med Surg. 2015.
PMID: 26025008
Item in Clipboard
Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.
Al-Sannaa NA, Hoornaert KP, Van Laer L, Al-Abdulwahed HY, Mortier G.
Al-Sannaa NA, et al. Among authors: al abdulwahed hy.
Eur J Med Genet. 2020 Dec;63(12):104059. doi: 10.1016/j.ejmg.2020.104059. Epub 2020 Sep 5.
Eur J Med Genet. 2020.
PMID: 32896647
Item in Clipboard
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG.
Schaffer AE, et al. Among authors: al abdulwahed hy.
Nat Genet. 2018 Aug;50(8):1093-1101. doi: 10.1038/s41588-018-0166-0. Epub 2018 Jul 16.
Nat Genet. 2018.
PMID: 30013181
Free PMC article.
Item in Clipboard
Cite
Cite