Michelson M - 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: michelson m. 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

Urinary organic acid screening in children with developmental language delay.

Michelson M, Harel S, Gutman A, Lerman-Sagie T. Michelson M, et al. J Inherit Metab Dis. 1999 Oct;22(7):815-20. doi: 10.1023/a:1005558108125. J Inherit Metab Dis. 1999. PMID: 10518282

3

Inborn errors of metabolism: a cause of abnormal brain development.

Nissenkorn A, Michelson M, Ben-Zeev B, Lerman-Sagie T. Nissenkorn A, et al. Among authors: michelson m. Neurology. 2001 May 22;56(10):1265-72. doi: 10.1212/wnl.56.10.1265. Neurology. 2001. PMID: 11383558 Review.

4

A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion.

Leshinsky-Silver E, Michelson M, Cohen S, Ginsberg M, Sadeh M, Barash V, Lerman-Sagie T, Lev D. Leshinsky-Silver E, et al. Among authors: michelson m. Eur J Paediatr Neurol. 2008 Jul;12(4):309-13. doi: 10.1016/j.ejpn.2007.09.005. Epub 2007 Oct 22. Eur J Paediatr Neurol. 2008. PMID: 17951082

5

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM. Brancati F, et al. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18565097 Free PMC article.

6

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. Among authors: michelson m. J Child Neurol. 2010 Jul;25(7):892-7. doi: 10.1177/0883073809351316. Epub 2010 Jan 21. J Child Neurol. 2010. PMID: 20097664

7

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

8

Autistic regression in a child with Silver-Russell syndrome and maternal UPD 7.

Vardi O, Davidovitch M, Vinkler C, Michelson M, Lerman-Sagie T, Lev D. Vardi O, et al. Among authors: michelson m. Eur J Paediatr Neurol. 2012 Jan;16(1):95-8. doi: 10.1016/j.ejpn.2011.05.009. Epub 2011 Jul 12. Eur J Paediatr Neurol. 2012. PMID: 21752678

9

Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli population.

Yanoov-Sharav M, Leshinsky-Silver E, Cohen S, Vinkler C, Michelson M, Lerman-Sagie T, Ginzberg M, Sadeh M, Lev D. Yanoov-Sharav M, et al. Among authors: michelson m. J Genet Couns. 2012 Aug;21(4):557-63. doi: 10.1007/s10897-011-9422-5. Epub 2011 Nov 23. J Genet Couns. 2012. PMID: 22109111

10

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

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