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Year | Number of Results |
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2018 | 1 |
2019 | 1 |
2021 | 3 |
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Page 1
Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients.
Genes (Basel). 2021 Aug 27;12(9):1334. doi: 10.3390/genes12091334.
Genes (Basel). 2021.
PMID: 34573316
Free PMC article.
Introducing and Implementing Genetic Assessment in Cardio-Obstetrics Clinical Practice: Clinical and Genetic Workup of Patients with Cardiomyopathy.
Mansoori GA, Mahmeed WA, Wani S, Salih BT, Ansari TE, Farook F, Farooq Z, Khair H, Zaręba K, Dhahouri NA, Raj A, Foo RS, Ali BR, Jasmi FA, Akawi N.
Mansoori GA, et al. Among authors: dhahouri na.
Int J Mol Sci. 2023 May 23;24(11):9119. doi: 10.3390/ijms24119119.
Int J Mol Sci. 2023.
PMID: 37298070
Free PMC article.
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Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene.
Al Dhahouri N, Ali A, Hertecant J, Al-Jasmi F.
Al Dhahouri N, et al.
Front Pediatr. 2022 Feb 3;9:803732. doi: 10.3389/fped.2021.803732. eCollection 2021.
Front Pediatr. 2022.
PMID: 35186827
Free PMC article.
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Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency.
Ali A, Dhahouri NA, Almesmari FSA, Fathalla WM, Jasmi FA.
Ali A, et al. Among authors: dhahouri na.
Genes (Basel). 2021 May 8;12(5):703. doi: 10.3390/genes12050703.
Genes (Basel). 2021.
PMID: 34066864
Free PMC article.
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Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism.
Al-Dirbashi OY, Alfadhel M, Al-Thihli K, Al Dhahouri N, Langhans CD, Al Hammadi Z, Al-Shamsi A, Hertecant J, Okun JG, Hoffmann GF, Al-Jasmi F.
Al-Dirbashi OY, et al. Among authors: al dhahouri n.
Sci Rep. 2019 Aug 26;9(1):12366. doi: 10.1038/s41598-019-48885-9.
Sci Rep. 2019.
PMID: 31451751
Free PMC article.
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Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias.
Al Dhahouri N, Langhans CD, Al Hammadi Z, Okun JG, Hoffmann GF, Al-Jasmi F, Al-Dirbashi OY.
Al Dhahouri N, et al.
Clin Chim Acta. 2018 Dec;487:41-45. doi: 10.1016/j.cca.2018.09.017. Epub 2018 Sep 11.
Clin Chim Acta. 2018.
PMID: 30217751
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