Spiegel R - Search Results

1

A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay.

Hexner-Erlichman Z, Fichtman B, Zehavi Y, Khayat M, Jabaly-Habib H, Izhaki-Tavor LS, Dessau M, Elpeleg O, Spiegel R. Hexner-Erlichman Z, et al. Among authors: spiegel r. Front Pediatr. 2022 May 17;10:859034. doi: 10.3389/fped.2022.859034. eCollection 2022. Front Pediatr. 2022. PMID: 35656379 Free PMC article.

2

Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.

Spiegel R, Shaag A, Gutman A, Korman SH, Saada A, Elpeleg O, Shalev SA. Spiegel R, et al. J Inherit Metab Dis. 2007 Apr;30(2):266. doi: 10.1007/s10545-007-0536-8. Epub 2007 Feb 15. J Inherit Metab Dis. 2007. PMID: 17372854

3

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.

Spiegel R, Shaag A, Mandel H, Reich D, Penyakov M, Hujeirat Y, Saada A, Elpeleg O, Shalev SA. Spiegel R, et al. Eur J Hum Genet. 2009 Sep;17(9):1200-3. doi: 10.1038/ejhg.2009.24. Epub 2009 Mar 4. Eur J Hum Genet. 2009. PMID: 19259137 Free PMC article.

4

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.

Spiegel R, Shaag A, Edvardson S, Mandel H, Stepensky P, Shalev SA, Horovitz Y, Pines O, Elpeleg O. Spiegel R, et al. Ann Neurol. 2009 Sep;66(3):419-24. doi: 10.1002/ana.21752. Ann Neurol. 2009. PMID: 19798730

5

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.

Spiegel R, Khayat M, Shalev SA, Horovitz Y, Mandel H, Hershkovitz E, Barghuti F, Shaag A, Saada A, Korman SH, Elpeleg O, Yatsiv I. Spiegel R, et al. J Med Genet. 2011 Mar;48(3):177-82. doi: 10.1136/jmg.2010.084608. Epub 2010 Dec 8. J Med Genet. 2011. PMID: 21147908

6

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, Edvardson S, Mahajna M, Zenvirt S, Saada A, Shalev S, Feuk L, Elpeleg O. Spiegel R, et al. Am J Hum Genet. 2012 Mar 9;90(3):518-23. doi: 10.1016/j.ajhg.2012.01.009. Am J Hum Genet. 2012. PMID: 22405087 Free PMC article.

7

A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy.

Atay Z, Bereket A, Turan S, Haliloglu B, Memisoglu A, Khayat M, Shalev SA, Spiegel R. Atay Z, et al. Among authors: spiegel r. Gene. 2013 Feb 15;515(1):197-9. doi: 10.1016/j.gene.2012.11.044. Epub 2012 Dec 9. Gene. 2013. PMID: 23235116

8

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

Spiegel R, Saada A, Halvardson J, Soiferman D, Shaag A, Edvardson S, Horovitz Y, Khayat M, Shalev SA, Feuk L, Elpeleg O. Spiegel R, et al. Eur J Hum Genet. 2014 Jul;22(7):902-6. doi: 10.1038/ejhg.2013.269. Epub 2013 Nov 27. Eur J Hum Genet. 2014. PMID: 24281368 Free PMC article. Clinical Trial.

9

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.

Spiegel R, Mandel H, Saada A, Lerer I, Burger A, Shaag A, Shalev SA, Jabaly-Habib H, Goldsher D, Gomori JM, Lossos A, Elpeleg O, Meiner V. Spiegel R, et al. Eur J Hum Genet. 2014 Aug;22(8):1019-25. doi: 10.1038/ejhg.2013.284. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424123 Free PMC article.

10

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.

Mandel H, Cohen Katsanelson K, Khayat M, Chervinsky I, Vladovski E, Iancu TC, Indelman M, Horovitz Y, Sprecher E, Shalev SA, Spiegel R. Mandel H, et al. Among authors: spiegel r. Eur J Med Genet. 2014 Nov-Dec;57(11-12):607-12. doi: 10.1016/j.ejmg.2014.09.004. Epub 2014 Sep 28. Eur J Med Genet. 2014. PMID: 25270050

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