Gomori JM - Search Results

1

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.

Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, Saada A, Elpeleg O. Edvardson S, et al. Among authors: gomori jm. Am J Hum Genet. 2007 Oct;81(4):857-62. doi: 10.1086/521227. Epub 2007 Aug 24. Am J Hum Genet. 2007. PMID: 17847012 Free PMC article.

2

The unique neuroradiology of complex I deficiency due to NDUFA12L defect.

Barghuti F, Elian K, Gomori JM, Shaag A, Edvardson S, Saada A, Elpeleg O. Barghuti F, et al. Among authors: gomori jm. Mol Genet Metab. 2008 May;94(1):78-82. doi: 10.1016/j.ymgme.2007.11.013. Epub 2008 Jan 3. Mol Genet Metab. 2008. PMID: 18180188

3

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, Soffer D, Korman SH, Taustein I, Saada A, Elpeleg O. Edvardson S, et al. Among authors: gomori jm. Am J Hum Genet. 2008 Nov;83(5):643-8. doi: 10.1016/j.ajhg.2008.10.010. Am J Hum Genet. 2008. PMID: 19068277 Free PMC article.

4

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

Edvardson S, Shaag A, Zenvirt S, Erlich Y, Hannon GJ, Shanske AL, Gomori JM, Ekstein J, Elpeleg O. Edvardson S, et al. Among authors: gomori jm. Am J Hum Genet. 2010 Jan;86(1):93-7. doi: 10.1016/j.ajhg.2009.12.007. Epub 2009 Dec 31. Am J Hum Genet. 2010. PMID: 20036350 Free PMC article.

5

l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation.

Edvardson S, Korman SH, Livne A, Shaag A, Saada A, Nalbandian R, Allouche-Arnon H, Gomori JM, Katz-Brull R. Edvardson S, et al. Among authors: gomori jm. Mol Genet Metab. 2010 Oct-Nov;101(2-3):228-32. doi: 10.1016/j.ymgme.2010.06.021. Epub 2010 Jul 7. Mol Genet Metab. 2010. PMID: 20682460

6

Devastating recurrent brain ischemic infarctions and retinal disease in pediatric patients with CD59 deficiency.

Ben-Zeev B, Tabib A, Nissenkorn A, Garti BZ, Gomori JM, Nass D, Goldshmidt H, Fellig Y, Anikster Y, Nevo Y, Elpeleg O, Mevorach D. Ben-Zeev B, et al. Among authors: gomori jm. Eur J Paediatr Neurol. 2015 Nov;19(6):688-93. doi: 10.1016/j.ejpn.2015.07.001. Epub 2015 Jul 20. Eur J Paediatr Neurol. 2015. PMID: 26233519

7

Magnetic resonance and echocardiographic imaging of double chamber right ventricle.

Rein AJ, Gomori JM, Gilon D. Rein AJ, et al. Among authors: gomori jm. J Comput Assist Tomogr. 1995 Mar-Apr;19(2):329-30. doi: 10.1097/00004728-199503000-00034. J Comput Assist Tomogr. 1995. PMID: 7890869 No abstract available.

8

Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family.

Lossos A, Reches A, Gal A, Newman JP, Soffer D, Gomori JM, Boher M, Ekstein D, Biran I, Meiner Z, Abramsky O, Rosenmann H. Lossos A, et al. Among authors: gomori jm. J Neurol. 2003 Jun;250(6):733-40. doi: 10.1007/s00415-003-1074-4. J Neurol. 2003. PMID: 12796837

9

A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.

Lossos A, Baala L, Soffer D, Averbuch-Heller L, Dotan S, Munnich A, Lyonnet S, Gomori JM, Genem A, Neufeld M, Abramsky O, Zlotogora J, Argov Z. Lossos A, et al. Among authors: gomori jm. Brain. 2005 Jan;128(Pt 1):42-51. doi: 10.1093/brain/awh338. Epub 2004 Nov 17. Brain. 2005. PMID: 15548556

10

Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: expanding the phenotype to include vascular anomalies.

Horev L, Lees MM, Anteby I, Gomori JM, Gunny R, Ben-Neriah Z. Horev L, et al. Among authors: gomori jm. Am J Med Genet A. 2011 Mar;155A(3):577-81. doi: 10.1002/ajmg.a.33104. Epub 2011 Feb 18. Am J Med Genet A. 2011. PMID: 21337683 No abstract available.

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