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
Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients.
Pak J Med Sci. 2020 Mar-Apr;36(3):479-484. doi: 10.12669/pjms.36.3.467.
Pak J Med Sci. 2020.
PMID: 32292456
Free PMC article.
Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.
Rasool IG, Zahoor MY, Iqbal M, Anjum AA, Ashraf F, Abbas HQ, Baig HMA, Mahmood T, Shehzad W.
Rasool IG, et al.
Genes Genomics. 2021 May;43(5):503-512. doi: 10.1007/s13258-021-01070-7. Epub 2021 Mar 12.
Genes Genomics. 2021.
PMID: 33710595
Item in Clipboard
Description of novel variants in consanguineous Pakistani families affected with intellectual disability.
Rasool IG, Zahoor MY, Ahmed I, Iqbal M, Shafqat S, Anjum AA, Shehzad W.
Rasool IG, et al.
Genes Genomics. 2023 Apr;45(4):457-465. doi: 10.1007/s13258-022-01219-y. Epub 2022 Feb 12.
Genes Genomics. 2023.
PMID: 35150401
Item in Clipboard
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL Jr, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Broly M, Küry S, Nizon M, Rasool IG, Zahoor MY, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal PB, Beggs AH, Yu TW.
Harris HK, et al. Among authors: rasool ig.
Genet Med. 2021 Jun;23(6):1028-1040. doi: 10.1038/s41436-021-01114-z. Epub 2021 Mar 3.
Genet Med. 2021.
PMID: 33658631
Free PMC article.
Item in Clipboard
Cite
Cite