Alsheddi TH - Search Results

1

Structural, Thermal, and Optical Studies of Gamma Irradiated Polyvinyl Alcohol-, Lignosulfonate-, and Palladium Nanocomposite Film.

Gharbi F, Benthami K, Alsheddi TH, Barakat MME, Alnaim N, Alshoaibi A, Nouh SA. Gharbi F, et al. Among authors: alsheddi th. Polymers (Basel). 2022 Jun 28;14(13):2613. doi: 10.3390/polym14132613. Polymers (Basel). 2022. PMID: 35808659 Free PMC article.

2

Role of copper and alumina for heat transfer in hybrid nanofluid by using Fourier sine transform.

Souayeh B, Abro KA, Siyal A, Hdhiri N, Hammami F, Al-Shaeli M, Alnaim N, Raju SSK, Alam MW, Alsheddi T. Souayeh B, et al. Sci Rep. 2022 Jul 4;12(1):11307. doi: 10.1038/s41598-022-14936-x. Sci Rep. 2022. PMID: 35789186 Free PMC article.

3

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.

Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS. Shaheen R, et al. Am J Hum Genet. 2011 Aug 12;89(2):328-33. doi: 10.1016/j.ajhg.2011.07.009. Epub 2011 Aug 4. Am J Hum Genet. 2011. PMID: 21820096 Free PMC article.

4

POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.

Shaheen R, Faqeih E, Shamseldin HE, Noche RR, Sunker A, Alshammari MJ, Al-Sheddi T, Adly N, Al-Dosari MS, Megason SG, Al-Husain M, Al-Mohanna F, Alkuraya FS. Shaheen R, et al. Am J Hum Genet. 2012 Aug 10;91(2):330-6. doi: 10.1016/j.ajhg.2012.05.025. Epub 2012 Jul 26. Am J Hum Genet. 2012. PMID: 22840364 Free PMC article.

5

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.

Shamseldin HE, Alshammari M, Al-Sheddi T, Salih MA, Alkhalidi H, Kentab A, Repetto GM, Hashem M, Alkuraya FS. Shamseldin HE, et al. J Med Genet. 2012 Apr;49(4):234-41. doi: 10.1136/jmedgenet-2012-100836. J Med Genet. 2012. PMID: 22499341

6

Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.

Alazami AM, Al-Owain M, Alzahrani F, Shuaib T, Al-Shamrani H, Al-Falki YH, Al-Qahtani SM, Alsheddi T, Colak D, Alkuraya FS. Alazami AM, et al. Hum Mutat. 2012 Oct;33(10):1429-34. doi: 10.1002/humu.22175. Epub 2012 Aug 30. Hum Mutat. 2012. PMID: 22865833

7

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.

Al-Sayed MD, Al-Zaidan H, Albakheet A, Hakami H, Kenana R, Al-Yafee Y, Al-Dosary M, Qari A, Al-Sheddi T, Al-Muheiza M, Al-Qubbaj W, Lakmache Y, Al-Hindi H, Ghaziuddin M, Colak D, Kaya N. Al-Sayed MD, et al. Am J Hum Genet. 2013 Oct 3;93(4):721-6. doi: 10.1016/j.ajhg.2013.08.001. Epub 2013 Sep 26. Am J Hum Genet. 2013. PMID: 24075186 Free PMC article.

8

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs.

Shaheen R, Al-Dirbashi OY, Al-Hassnan ZN, Al-Owain M, Makhsheed N, Basheeri F, Seidahmed MZ, Salih MA, Faqih E, Zaidan H, Al-Sayed M, Rahbeeni Z, Al-Sheddi T, Hashem M, Kurdi W, Shimozawa N, Alkuraya FS. Shaheen R, et al. Clin Genet. 2011 Jan;79(1):60-70. doi: 10.1111/j.1399-0004.2010.01498.x. Clin Genet. 2011. PMID: 20681997

9

NUP214 deficiency causes severe encephalopathy and microcephaly in humans.

Shamseldin HE, Makhseed N, Ibrahim N, Al-Sheddi T, Alobeid E, Abdulwahab F, Alkuraya FS. Shamseldin HE, et al. Hum Genet. 2019 Mar;138(3):221-229. doi: 10.1007/s00439-019-01979-w. Epub 2019 Feb 13. Hum Genet. 2019. PMID: 30758658

10

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.

Shaheen R, Jiang N, Alzahrani F, Ewida N, Al-Sheddi T, Alobeid E, Musaev D, Stanley V, Hashem M, Ibrahim N, Abdulwahab F, Alshenqiti A, Sonmez FM, Saqati N, Alzaidan H, Al-Qattan MM, Al-Mohanna F, Gleeson JG, Alkuraya FS. Shaheen R, et al. Am J Hum Genet. 2019 Apr 4;104(4):731-737. doi: 10.1016/j.ajhg.2019.02.018. Epub 2019 Mar 21. Am J Hum Genet. 2019. PMID: 30905400 Free PMC article.

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