Fadhli F - Search Results

1

Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation.

Almatrafi A, Hashmi JA, Fadhli F, Alharbi A, Afzal S, Ramzan K, Basit S. Almatrafi A, et al. Among authors: fadhli f. Glob Med Genet. 2020 Dec;7(4):109-112. doi: 10.1055/s-0041-1722873. Epub 2021 Feb 1. Glob Med Genet. 2020. PMID: 33693443 Free PMC article.

2

Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.

Hashmi JA, Fadhli F, Almatrafi A, Afzal S, Ramzan K, Thiele H, Nürnberg P, Basit S. Hashmi JA, et al. Among authors: fadhli f. Brain Dev. 2020 Sep;42(8):587-593. doi: 10.1016/j.braindev.2020.04.010. Epub 2020 May 10. Brain Dev. 2020. PMID: 32402540

3

A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration.

Ain Ul Batool S, Almatrafi A, Fadhli F, Alluqmani M, Sadia, Ali G, Basit S. Ain Ul Batool S, et al. Among authors: fadhli f. Am J Med Genet A. 2022 Apr;188(4):1075-1082. doi: 10.1002/ajmg.a.62614. Epub 2021 Dec 17. Am J Med Genet A. 2022. PMID: 34918859

4

Quantifying the impact of urban road traffic on air quality: activity pre-pandemic and during partial and full lockdowns.

Alhajeri NS, Al-Fadhli FM, Aly A, Allen DT. Alhajeri NS, et al. Among authors: al fadhli fm. Environ Monit Assess. 2024 Apr 3;196(5):418. doi: 10.1007/s10661-024-12572-8. Environ Monit Assess. 2024. PMID: 38570428

5

Synergistic algal/bacterial interaction in membrane bioreactor for detoxification of 1,2-dichloroethane-rich petroleum wastewater.

Alhajeri NS, Tawfik A, Elsamadony M, Al-Fadhli FM, Meng F. Alhajeri NS, et al. Among authors: al fadhli fm. J Hazard Mater. 2024 May 15;470:134125. doi: 10.1016/j.jhazmat.2024.134125. Epub 2024 Mar 29. J Hazard Mater. 2024. PMID: 38565016

6

An integrated framework for exploring the tradeoffs between cost-optimized fuel allocation and regional air quality impacts in a water-energy nexus infrastructure.

Alhajeri NS, Al-Fadhli FM, Alshawaf M, Aly A. Alhajeri NS, et al. Among authors: al fadhli fm. Environ Sci Pollut Res Int. 2022 Sep;29(41):62561-62578. doi: 10.1007/s11356-022-20118-z. Epub 2022 Apr 11. Environ Sci Pollut Res Int. 2022. PMID: 35399132

7

Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.

Bilal Shamsi M, Saleh M, Almuntashri M, Alharby E, Samman M, Peake RWA, Al-Fadhli FM, Alasmari A, Faqeih EA, Almontashiri NAM. Bilal Shamsi M, et al. Among authors: al fadhli fm. J Hum Genet. 2021 Jul;66(7):689-695. doi: 10.1038/s10038-021-00904-2. Epub 2021 Jan 27. J Hum Genet. 2021. PMID: 33500540

8

Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.

Al-Fadhli FM, Afqi M, Sairafi MH, Almuntashri M, Alharby E, Alharbi G, Abdud Samad F, Hashmi JA, Zaytuni D, Bahashwan AA, Choi JH, Peake RWA, Beutler B, Almontashiri NAM. Al-Fadhli FM, et al. Clin Genet. 2021 May;99(5):694-703. doi: 10.1111/cge.13930. Epub 2021 Feb 17. Clin Genet. 2021. PMID: 33495992

9

The impact of power plant emission variability and fuel switching on the air quality of Kuwait.

Al-Fadhli FM, Alhajeri NS, Aly AZ, Allen DT. Al-Fadhli FM, et al. Sci Total Environ. 2019 Jul 1;672:593-603. doi: 10.1016/j.scitotenv.2019.03.441. Epub 2019 Mar 31. Sci Total Environ. 2019. PMID: 30970287

10

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.

Patel N, Shamseldin HE, Sakati N, Khan AO, Softa A, Al-Fadhli FM, Hashem M, Abdulwahab FM, Alshidi T, Alomar R, Alobeid E, Wakil SM, Colak D, Alkuraya FS. Patel N, et al. Among authors: al fadhli fm. Am J Hum Genet. 2017 May 4;100(5):831-836. doi: 10.1016/j.ajhg.2017.04.008. Am J Hum Genet. 2017. PMID: 28475863 Free PMC article.

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