Horovitz Y - Search Results

1

Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.

Shalev SA, Tenenbaum-Rakover Y, Horovitz Y, Paz VP, Ye H, Carmody D, Highland HM, Boerwinkle E, Hanis CL, Muzny DM, Gibbs RA, Bell GI, Philipson LH, Greeley SA. Shalev SA, et al. Among authors: horovitz y. Pediatr Diabetes. 2014 May;15(3):252-6. doi: 10.1111/pedi.12086. Epub 2013 Oct 21. Pediatr Diabetes. 2014. PMID: 24138066 Free PMC article.

2

Expanding the clinical spectrum of SLC29A3 gene defects.

Spiegel R, Cliffe ST, Buckley MF, Crow YJ, Urquhart J, Horovitz Y, Tenenbaum-Rakover Y, Newman WG, Donnai D, Shalev SA. Spiegel R, et al. Among authors: horovitz y. Eur J Med Genet. 2010 Sep-Oct;53(5):309-13. doi: 10.1016/j.ejmg.2010.06.012. Epub 2010 Jul 7. Eur J Med Genet. 2010. PMID: 20619369

3

Association of chronic symptomatic neutropenia with the triple A syndrome.

Spiegel R, Shalev S, Huebner A, Horovitz Y. Spiegel R, et al. Among authors: horovitz y. J Pediatr Hematol Oncol. 2005 Jan;27(1):53-5. doi: 10.1097/01.mph.0000151802.34101.ad. J Pediatr Hematol Oncol. 2005. PMID: 15654281

4

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. Among authors: horovitz y. 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

5

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. Among authors: horovitz y. 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.

6

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: horovitz y. 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

7

Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome.

Mahamid J, Lorber A, Horovitz Y, Shalev SA, Collin GB, Naggert JK, Marshall JD, Spiegel R. Mahamid J, et al. Among authors: horovitz y. Pediatr Cardiol. 2013 Feb;34(2):455-8. doi: 10.1007/s00246-012-0296-6. Epub 2012 Mar 24. Pediatr Cardiol. 2013. PMID: 22447358 Free PMC article.

8

A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities.

Spiegel R, Horovitz Y, Peters H, Erdogan F, Chervinsky I, Shalev SA. Spiegel R, et al. Among authors: horovitz y. Am J Med Genet A. 2009 Dec;149A(12):2655-60. doi: 10.1002/ajmg.a.33127. Am J Med Genet A. 2009. PMID: 19938075

9

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. Among authors: horovitz y. Ann Neurol. 2009 Sep;66(3):419-24. doi: 10.1002/ana.21752. Ann Neurol. 2009. PMID: 19798730

10

Diagnosis of familial Mediterranean fever following the initial presentation of monoarthritis.

Horovitz Y, Tanous O, Khayat M, Shaker M, Shalev S, Spiegel R. Horovitz Y, et al. Int J Rheum Dis. 2018 Mar;21(3):755-760. doi: 10.1111/1756-185X.12906. Epub 2016 Jun 16. Int J Rheum Dis. 2018. PMID: 27310037

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