Hamzeh AR - Search Results

1

Novel SPG20 mutation in an extended family with Troyer syndrome.

Bizzari S, Hamzeh AR, Nair P, Mohamed M, Saif F, Aithala G, Al-Ali MT, Bastaki F. Bizzari S, et al. Among authors: hamzeh ar. Metab Brain Dis. 2017 Dec;32(6):2155-2159. doi: 10.1007/s11011-017-0104-3. Epub 2017 Sep 5. Metab Brain Dis. 2017. PMID: 28875386

2

A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.

Hamzeh AR, Nair P, Mohamed M, Saif F, Tawfiq N, Al-Ali MT, Bastaki F. Hamzeh AR, et al. Ir J Med Sci. 2017 May;186(2):333-337. doi: 10.1007/s11845-016-1418-6. Epub 2016 Feb 9. Ir J Med Sci. 2017. PMID: 26860117

3

Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly.

Bastaki F, Mohamed M, Nair P, Saif F, Tawfiq N, Aithala G, El-Halik M, Al-Ali M, Hamzeh AR. Bastaki F, et al. Among authors: hamzeh ar. Congenit Anom (Kyoto). 2016 May;56(3):135-7. doi: 10.1111/cga.12144. Congenit Anom (Kyoto). 2016. PMID: 26577670

4

A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome.

Hamzeh AR, Nair P, Mohamed M, Saif F, Tawfiq N, Al-Ali MT, Bastaki F. Hamzeh AR, et al. Eur J Med Genet. 2016 Jun;59(6-7):337-41. doi: 10.1016/j.ejmg.2016.05.006. Epub 2016 May 11. Eur J Med Genet. 2016. PMID: 27180139

5

Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

Nair P, Hamzeh AR, Mohamed M, Malik EM, Al-Ali MT, Bastaki F. Nair P, et al. Among authors: hamzeh ar. Metab Brain Dis. 2016 Oct;31(5):1189-92. doi: 10.1007/s11011-016-9842-x. Epub 2016 May 25. Metab Brain Dis. 2016. PMID: 27221955 Review.

6

Erratum to: Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

Nair P, Hamzeh AR, Mohamed M, Malik EM, Al-Ali MT, Bastaki F. Nair P, et al. Among authors: hamzeh ar. Metab Brain Dis. 2016 Oct;31(5):1193. doi: 10.1007/s11011-016-9855-5. Metab Brain Dis. 2016. PMID: 27306357 No abstract available.

7

Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).

Obeid T, Hamzeh AR, Saif F, Nair P, Mohamed M, Al-Ali MT, Bastaki F. Obeid T, et al. Among authors: hamzeh ar. Metab Brain Dis. 2018 Jun;33(3):869-873. doi: 10.1007/s11011-018-0200-z. Epub 2018 Feb 11. Metab Brain Dis. 2018. PMID: 29430593

8

A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.

Bastaki F, Mohamed M, Nair P, Saif F, Tawfiq N, Al-Ali MT, Brandau O, Hamzeh AR. Bastaki F, et al. Among authors: hamzeh ar. Mol Cell Probes. 2016 Feb;30(1):18-21. doi: 10.1016/j.mcp.2015.11.005. Epub 2015 Nov 26. Mol Cell Probes. 2016. PMID: 26631803

9

Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome.

Bastaki F, Saif F, Al Ali MT, Hamzeh AR. Bastaki F, et al. Among authors: hamzeh ar. Saudi Med J. 2016 Feb;37(2):215-6. doi: 10.15537/smj.2016.2.13593. Saudi Med J. 2016. PMID: 26837408 Free PMC article. No abstract available.

10

Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.

Nair P, Hamzeh AR, Mohamed M, Saif F, Tawfiq N, El Halik M, Al-Ali MT, Bastaki F. Nair P, et al. Among authors: hamzeh ar. Am J Med Genet A. 2016 Aug;170(8):2127-32. doi: 10.1002/ajmg.a.37766. Epub 2016 May 27. Am J Med Genet A. 2016. PMID: 27232581 Review.

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