Mahajnah M - Search Results

1

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.

Kurolap A, Armbruster A, Hershkovitz T, Hauf K, Mory A, Paperna T, Hannappel E, Tal G, Nijem Y, Sella E, Mahajnah M, Ilivitzki A, Hershkovitz D, Ekhilevitch N, Mandel H, Eulenburg V, Baris HN. Kurolap A, et al. Among authors: mahajnah m. Am J Hum Genet. 2016 Nov 3;99(5):1172-1180. doi: 10.1016/j.ajhg.2016.09.004. Epub 2016 Oct 20. Am J Hum Genet. 2016. PMID: 27773429 Free PMC article.

2

The liver in congenital disorders of glycosylation: ultrastructural features.

Iancu TC, Mahajnah M, Manov I, Cherurg S, Knopf C, Mandel H. Iancu TC, et al. Among authors: mahajnah m. Ultrastruct Pathol. 2007 May-Jun;31(3):189-97. doi: 10.1080/01913120701348286. Ultrastruct Pathol. 2007. PMID: 17613998

3

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.

Mochida GH, Mahajnah M, Hill AD, Basel-Vanagaite L, Gleason D, Hill RS, Bodell A, Crosier M, Straussberg R, Walsh CA. Mochida GH, et al. Among authors: mahajnah m. Am J Hum Genet. 2009 Dec;85(6):897-902. doi: 10.1016/j.ajhg.2009.10.027. Am J Hum Genet. 2009. PMID: 20004763 Free PMC article.

4

Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.

Sharkia R, Shalev SA, Zalan A, Marom-David M, Watemberg N, Urquhart JE, Daly SB, Bhaskar SS, Williams SG, Newman WG, Spiegel R, Azem A, Elpeleg O, Mahajnah M. Sharkia R, et al. Among authors: mahajnah m. Am J Med Genet A. 2017 Apr;173(4):1051-1055. doi: 10.1002/ajmg.a.38140. Am J Med Genet A. 2017. PMID: 28328138

5

A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome.

Sharkia R, Zalan A, Jabareen-Masri A, Zahalka H, Mahajnah M. Sharkia R, et al. Among authors: mahajnah m. Eur J Med Genet. 2019 Nov;62(11):103549. doi: 10.1016/j.ejmg.2018.10.001. Epub 2018 Oct 6. Eur J Med Genet. 2019. PMID: 30296593

6

A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia.

Sharkia R, Zalan A, Jabareen-Masri A, Hengel H, Schöls L, Kessel A, Azem A, Mahajnah M. Sharkia R, et al. Among authors: mahajnah m. Am J Med Genet A. 2019 Jul;179(7):1338-1345. doi: 10.1002/ajmg.a.61168. Epub 2019 May 18. Am J Med Genet A. 2019. PMID: 31102500

7

Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority.

Mayer AK, Balousha G, Sharkia R, Mahajnah M, Ayesh S, Schulze M, Buchert R, Zobor D, Azem A, Schöls L, Bauer P, Wissinger B. Mayer AK, et al. Among authors: mahajnah m. Eur J Hum Genet. 2020 Jun;28(6):742-753. doi: 10.1038/s41431-019-0566-3. Epub 2020 Jan 2. Eur J Hum Genet. 2020. PMID: 31896775 Free PMC article.

8

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.

Hengel H, Buchert R, Sturm M, Haack TB, Schelling Y, Mahajnah M, Sharkia R, Azem A, Balousha G, Ghanem Z, Falana M, Balousha O, Ayesh S, Keimer R, Deigendesch W, Zaidan J, Marzouqa H, Bauer P, Schöls L. Hengel H, et al. Among authors: mahajnah m. Eur J Hum Genet. 2020 Aug;28(8):1034-1043. doi: 10.1038/s41431-020-0609-9. Epub 2020 Mar 25. Eur J Hum Genet. 2020. PMID: 32214227 Free PMC article.

9

A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy.

Patra M, Weiss C, Abu-Libdeh B, Ashhab M, Abuzer S, Elpeleg O, Mahajnah M, Kessel A, Azem A. Patra M, et al. Among authors: mahajnah m. Eur J Hum Genet. 2019 Jul;27(7):1072-1080. doi: 10.1038/s41431-019-0358-9. Epub 2019 Feb 15. Eur J Hum Genet. 2019. PMID: 30770860 Free PMC article.

10

Gene and Protein Expression in Subjects With a Nystagmus-Associated AHR Mutation.

Borovok N, Weiss C, Sharkia R, Reichenstein M, Wissinger B, Azem A, Mahajnah M. Borovok N, et al. Among authors: mahajnah m. Front Genet. 2020 Sep 24;11:582796. doi: 10.3389/fgene.2020.582796. eCollection 2020. Front Genet. 2020. PMID: 33193710 Free PMC article.

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