Lerman-Sagie T - Search Results

1

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.

Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Vockley J, Berry GT, Lamhonwah AM, Matern D, Roe CR, Gregersen N. Tein I, et al. Mol Genet Metab. 2008 Feb;93(2):179-89. doi: 10.1016/j.ymgme.2007.09.021. Epub 2007 Dec 3. Mol Genet Metab. 2008. PMID: 18054510

2

Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.

Parvari R, Lei KJ, Bashan N, Hershkovitz E, Korman SH, Barash V, Lerman-Sagie T, Mandel H, Chou JY, Moses SW. Parvari R, et al. Am J Med Genet. 1997 Oct 31;72(3):286-90. doi: 10.1002/(sici)1096-8628(19971031)72:3<286::aid-ajmg6>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9332655

3

Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother.

Tanner SM, Orstavik KH, Kristiansen M, Lev D, Lerman-Sagie T, Sadeh M, Liechti-Gallati S. Tanner SM, et al. Hum Genet. 1999 Mar;104(3):249-53. doi: 10.1007/s004390050943. Hum Genet. 1999. PMID: 10323249

4

Mitochondrial DNA mutations are where to look.

Lerman-Sagie T, Haftel L, Elpeleg ON. Lerman-Sagie T, et al. J Child Neurol. 1999 Jul;14(7):479. doi: 10.1177/088307389901400716. J Child Neurol. 1999. PMID: 10573475 No abstract available.

5

Progressive neurological deterioration in a child with distal arthrogryposis and whistling face.

Lev D, Yanoov M, Weintraub S, Lerman-Sagie T. Lev D, et al. J Med Genet. 2000 Mar;37(3):231-3. doi: 10.1136/jmg.37.3.231. J Med Genet. 2000. PMID: 10777369 Free PMC article. No abstract available.

6

Familial mitochondrial intestinal pseudo-obstruction and neurogenic bladder.

Haftel LT, Lev D, Barash V, Gutman A, Bujanover Y, Lerman-Sagie T. Haftel LT, et al. J Child Neurol. 2000 Jun;15(6):386-9. doi: 10.1177/088307380001500606. J Child Neurol. 2000. PMID: 10868781

7

[Mitochondrial diseases: molecular genetics and clinical applications].

Leshinsky-Silver E, Lev D, Lerman-Sagie T. Leshinsky-Silver E, et al. Harefuah. 2000 Feb 1;138(3):220-9. Harefuah. 2000. PMID: 10883098 Review. Hebrew. No abstract available.

8

Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis.

Fattal-Valevski A, Bassan H, Korman SH, Lerman-Sagie T, Gutman A, Harel S. Fattal-Valevski A, et al. J Child Neurol. 2000 Aug;15(8):539-43. doi: 10.1177/088307380001500808. J Child Neurol. 2000. PMID: 10961793

9

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

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

10

White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation.

Lev D, Yanoov-Sharav M, Watemberg N, Leshinsky-Silver E, Lerman-Sagie T. Lev D, et al. Eur J Paediatr Neurol. 2002;6(2):121-3. doi: 10.1053/ejpn.2001.0558. Eur J Paediatr Neurol. 2002. PMID: 11995959

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