Leshinsky-Silver E - Search Results

1

Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia.

Zerem A, Vinkler C, Michelson M, Leshinsky-Silver E, Lerman-Sagie T, Lev D. Zerem A, et al. Am J Med Genet A. 2011 Dec;155A(12):2991-6. doi: 10.1002/ajmg.a.34316. Epub 2011 Nov 3. Am J Med Genet A. 2011. PMID: 22052843

2

Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region.

Michelson M, Ben-Sasson A, Vinkler C, Leshinsky-Silver E, Netzer I, Frumkin A, Kivity S, Lerman-Sagie T, Lev D. Michelson M, et al. Am J Med Genet A. 2012 Jun;158A(6):1395-9. doi: 10.1002/ajmg.a.35361. Epub 2012 May 14. Am J Med Genet A. 2012. PMID: 22585544

3

A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.

Vinkler C, Leshinsky-Silver E, Michelson M, Haas D, Lerman-Sagie T, Lev D. Vinkler C, et al. Eur J Med Genet. 2014 May-Jun;57(6):288-92. doi: 10.1016/j.ejmg.2014.03.010. Epub 2014 Apr 5. Eur J Med Genet. 2014. PMID: 24709618

4

Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.

Leshinsky-Silver E, Ling J, Wu J, Vinkler C, Yosovich K, Bahar S, Yanoov-Sharav M, Lerman-Sagie T, Lev D. Leshinsky-Silver E, et al. Neurogenetics. 2017 Jul;18(3):141-146. doi: 10.1007/s10048-017-0516-6. Epub 2017 Jun 15. Neurogenetics. 2017. PMID: 28620870

5

A new autosomal recessive syndrome with Zellweger-like manifestations.

Ahn JK, Lev D, Leshinsky-Silver E, Ginzberg M, Lerman-Sagie T. Ahn JK, et al. Am J Med Genet A. 2003 Jun 15;119A(3):352-5. doi: 10.1002/ajmg.a.20124. Am J Med Genet A. 2003. PMID: 12784304

6

Familial optic atrophy with white matter changes.

Vinkler C, Lev D, Kalish H, Watemberg N, Yanoov-Sharav M, Leshinsky-Silver E, Lerman-Sagie T. Vinkler C, et al. Am J Med Genet A. 2003 Sep 1;121A(3):263-5. doi: 10.1002/ajmg.a.20238. Am J Med Genet A. 2003. PMID: 12923868

7

White matter involvement in mitochondrial diseases.

Lerman-Sagie T, Leshinsky-Silver E, Watemberg N, Luckman Y, Lev D. Lerman-Sagie T, et al. Mol Genet Metab. 2005 Feb;84(2):127-36. doi: 10.1016/j.ymgme.2004.09.008. Epub 2004 Dec 10. Mol Genet Metab. 2005. PMID: 15670718 Review.

8

A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.

Lev D, Weigl Y, Hasan M, Gak E, Davidovich M, Vinkler C, Leshinsky-Silver E, Lerman-Sagie T, Watemberg N. Lev D, et al. Am J Med Genet A. 2007 May 1;143A(9):921-4. doi: 10.1002/ajmg.a.31531. Am J Med Genet A. 2007. PMID: 17334993

9

Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.

Blumkin L, Michelson M, Leshinsky-Silver E, Kivity S, Lev D, Lerman-Sagie T. Blumkin L, et al. J Child Neurol. 2010 Jul;25(7):892-7. doi: 10.1177/0883073809351316. Epub 2010 Jan 21. J Child Neurol. 2010. PMID: 20097664

10

Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother.

Michelson M, Eden A, Vinkler C, Leshinsky-Silver E, Kremer U, Lerman-Sagie T, Lev D. Michelson M, et al. Eur J Paediatr Neurol. 2011 May;15(3):230-3. doi: 10.1016/j.ejpn.2010.11.001. Epub 2010 Dec 8. Eur J Paediatr Neurol. 2011. PMID: 21145272

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

85 results

Search Page

Filters