Mandel H - Search Results

1

C7 complement deficiency in an Israeli Arab village.

Behar D, Schlesinger M, Halle D, Ben-Ami H, Edoute Y, Shahar E, Kasis I, Shihab S, Elstein D, Zimran A, Mandel H. Behar D, et al. Among authors: mandel h. Am J Med Genet. 2002 Jun 1;110(1):25-9. doi: 10.1002/ajmg.10393. Am J Med Genet. 2002. PMID: 12116267

2

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

Magen D, Ofir A, Berger L, Goldsher D, Eran A, Katib N, Nijem Y, Vlodavsky E, Tzur S, Behar DM, Fellig Y, Mandel H. Magen D, et al. Among authors: mandel h. Hum Genet. 2015 Mar;134(3):305-14. doi: 10.1007/s00439-014-1522-5. Epub 2015 Jan 6. Hum Genet. 2015. PMID: 25560765

3

[OXALATE STONES ARE PREVALENT AMONG DRUZE AND MUSLIM ARABS IN THE GALILEE].

Kalfon L, Weissman I, Hershkovits M, Nasser Samra N, Edri N, Khayat M, Tanus M, Shihab S, Mandel H, Falik-Zaccai T. Kalfon L, et al. Among authors: mandel h. Harefuah. 2017 Mar;156(3):156-162. Harefuah. 2017. PMID: 28551940 Hebrew.

4

Population screening in a Druze community: the challenge and the reward.

Falik-Zaccai TC, Kfir N, Frenkel P, Cohen C, Tanus M, Mandel H, Shihab S, Morkos S, Aaref S, Summar ML, Khayat M. Falik-Zaccai TC, et al. Among authors: mandel h. Genet Med. 2008 Dec;10(12):903-9. doi: 10.1097/GIM.0b013e31818d0e0f. Genet Med. 2008. PMID: 19092443 Free article.

5

Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

Magen D, Ofir A, Berger L, Goldsher D, Eran A, Katib N, Nijem Y, Vlodavsky E, Tzur S, Behar DM, Fellig Y, Mandel H. Magen D, et al. Among authors: mandel h. Hum Genet. 2015 Mar;134(3):315. doi: 10.1007/s00439-015-1530-0. Hum Genet. 2015. PMID: 25609191 No abstract available.

6

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. Among authors: mandel h. 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

7

Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.

Mandel H, Saita S, Edvardson S, Jalas C, Shaag A, Goldsher D, Vlodavsky E, Langer T, Elpeleg O. Mandel H, et al. J Med Genet. 2016 Oct;53(10):690-6. doi: 10.1136/jmedgenet-2016-103922. Epub 2016 May 12. J Med Genet. 2016. PMID: 27208207

8

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. 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

9

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.

Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K, Mandel H. Magen D, et al. Among authors: mandel h. Am J Hum Genet. 2008 Jul;83(1):30-42. doi: 10.1016/j.ajhg.2008.05.016. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18571143 Free PMC article.

10

TBCK-related intellectual disability syndrome: Case study of two patients.

Mandel H, Khayat M, Chervinsky E, Elpeleg O, Shalev S. Mandel H, et al. Am J Med Genet A. 2017 Feb;173(2):491-494. doi: 10.1002/ajmg.a.38019. Epub 2016 Oct 17. Am J Med Genet A. 2017. PMID: 27748029

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