Vinkler C - 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. Among authors: vinkler c. 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

Congenital cytomegalovirus infection presenting as an apparent neurodegenerative disorder.

Watemberg N, Vardi O, Lev D, Vinkler C, Lerman-Sagie T. Watemberg N, et al. Among authors: vinkler c. Clin Pediatr (Phila). 2002 Sep;41(7):519-22. doi: 10.1177/000992280204100710. Clin Pediatr (Phila). 2002. PMID: 12365315 No abstract available.

3

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

4

[Ketogenic diet as antiepileptic therapy: a description of the clinical experience and the multidisciplinary approach at the metabolic-neurogenetic clinic at the Wolfson Medical Center].

Ginzberg M, Watemberg N, Levi A, Gabai A, Nissenkorn A, Blumkin L, Vinkler C, Lev D, Lerman-Sagie T. Ginzberg M, et al. Among authors: vinkler c. Harefuah. 2004 Mar;143(3):177-81, 248, 247. Harefuah. 2004. PMID: 15065353 Hebrew.

5

Familial hyperekplexia and refractory status epilepticus: a new autosomal recessive syndrome.

Lerman-Sagie T, Watemberg N, Vinkler C, Fishhof J, Leshinsky-Silver E, Lev D. Lerman-Sagie T, et al. Among authors: vinkler c. J Child Neurol. 2004 Jul;19(7):522-5. doi: 10.1177/08830738040190070801. J Child Neurol. 2004. PMID: 15526957

6

A novel missense mutation in the Connexin 26 gene associated with autosomal recessive sensorineural deafness.

Leshinsky-Silver E, Berman Z, Vinkler C, Yannov-Sharav M, Lev D. Leshinsky-Silver E, et al. Among authors: vinkler c. Hear Res. 2005 Apr;202(1-2):258-61. doi: 10.1016/j.heares.2004.11.003. Hear Res. 2005. PMID: 15811717

7

A benign congenital myopathy in an inbred Samaritan family.

Lev D, Sadeh M, Watemberg N, Dabby R, Vinkler C, Ginzberg M, Lerman-Sagie T. Lev D, et al. Among authors: vinkler c. Eur J Paediatr Neurol. 2006 Jul;10(4):182-5. doi: 10.1016/j.ejpn.2006.06.003. Epub 2006 Sep 7. Eur J Paediatr Neurol. 2006. PMID: 16959509

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. Among authors: vinkler c. 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

Gene symbol: GJB2.

Leshinsky-Silver E, Berman Z, Vinkler C, Yannov-Sharav M, Lev D. Leshinsky-Silver E, et al. Among authors: vinkler c. Hum Genet. 2007 Apr;121(2):296. Hum Genet. 2007. PMID: 17598217 No abstract available.

10

Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1?

Lev D, Michelson-Kerman M, Vinkler C, Blumkin L, Shalev SA, Lerman-Sagie T. Lev D, et al. Among authors: vinkler c. Eur J Paediatr Neurol. 2008 Mar;12(2):97-101. doi: 10.1016/j.ejpn.2007.06.005. Epub 2007 Jul 30. Eur J Paediatr Neurol. 2008. PMID: 17681808

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