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A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.
Front Pediatr. 2020 Jul 16;8:383. doi: 10.3389/fped.2020.00383. eCollection 2020.
Front Pediatr. 2020.
PMID: 32766185
Free PMC article.
Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects.
Gaboon NEA, Banaganapalli B, Nasser K, Razeeth M, Alsaedi MS, Rashidi OM, Abdelwehab LS, Alahmadi TS, Safdar OY, Shaik J, Choudhry HMZ, Al-Numan HH, Khan MI, Al-Aama JY, Elango R, Shaik NA.
Gaboon NEA, et al.
Saudi J Biol Sci. 2020 Jan;27(1):324-334. doi: 10.1016/j.sjbs.2019.10.001. Epub 2019 Oct 18.
Saudi J Biol Sci. 2020.
PMID: 31889854
Free PMC article.
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Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations.
Parveen A, Khan SA, Mirza MU, Bashir H, Arshad F, Iqbal M, Ahmad W, Wahab A, Fiaz A, Naz S, Ashraf F, Mobeen T, Aziz S, Ahmed SS, Muhammad N, Hassib NF, Mostafa MI, Gaboon NE, Gul R, Khan S, Froeyen M, Shoaib M, Wasif N.
Parveen A, et al. Among authors: gaboon ne.
Int J Mol Sci. 2019 Oct 24;20(21):5282. doi: 10.3390/ijms20215282.
Int J Mol Sci. 2019.
PMID: 31652981
Free PMC article.
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A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family.
Gaboon NEA, Parveen A, El Beheiry A, Al-Aama JY, Alsaedi MS, Wasif N.
Gaboon NEA, et al.
Front Pediatr. 2019 Jun 25;7:245. doi: 10.3389/fped.2019.00245. eCollection 2019.
Front Pediatr. 2019.
PMID: 31294002
Free PMC article.
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Erratum: Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia.
Gaboon NEA, Bakur KH, Edrees AY, Al-Aama JY.
Gaboon NEA, et al.
J Pediatr Genet. 2017 Sep;6(3):e1. doi: 10.1055/s-0037-1603198. Epub 2017 May 10.
J Pediatr Genet. 2017.
PMID: 30800486
Free PMC article.
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Case of Sjögren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis.
Gaboon NE, Jelani M, Almramhi MM, Mohamoud HS, Al-Aama JY.
Gaboon NE, et al.
J Dermatol. 2015 Jul;42(7):706-9. doi: 10.1111/1346-8138.12861. Epub 2015 Apr 9.
J Dermatol. 2015.
PMID: 25855245
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Structural chromosomal abnormalities in couples with recurrent abortion in Egypt.
Gaboon NE, Mohamed AR, Elsayed SM, Zaki OK, Elsayed MA.
Gaboon NE, et al.
Turk J Med Sci. 2015;45(1):208-13. doi: 10.3906/sag-1310-5.
Turk J Med Sci. 2015.
PMID: 25790554
Free article.
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