Nurit Magal

Nurit Magal

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Nurit Magal

Nurit Magal

Publications by authors named "Nurit Magal"

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23Publications

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A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.

Eur J Paediatr Neurol 2018 May 30;22(3):516-524. Epub 2017 Dec 30.

Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva 4920235, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel; Raphael Recanati Genetics Institute, Rabin Medical Center- Beilinson Hospital, Petach Tikva 4941492, Israel; Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva 4941492, Israel. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798173164
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http://dx.doi.org/10.1016/j.ejpn.2017.12.017DOI Listing
May 2018

Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the Gene Contract to a Normal Size?

Front Genet 2017 3;8:158. Epub 2017 Nov 3.

Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, Davis, CA, United States.

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http://dx.doi.org/10.3389/fgene.2017.00158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5675867PMC
November 2017

Expanding the panel of MEFV mutations for routine testing of patients with a clinical diagnosis of familial Mediterranean fever.

Isr Med Assoc J 2011 Apr;13(4):206-8

Recanati Genetic Institute, Rabin Medical Center (Beilinson Campus), Petah Tikva, Israel.

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April 2011

Large-scale population carrier screening for spinal muscular atrophy in Israel--effect of ethnicity on the false-negative rate.

Genet Test Mol Biomarkers 2010 Jun;14(3):319-24

Rabin Medical Center, Recanati Institute of Medical Genetics, Petach Tikva, Israel.

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http://www.liebertpub.com/doi/10.1089/gtmb.2009.0089
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http://dx.doi.org/10.1089/gtmb.2009.0089DOI Listing
June 2010

Identification of the gene causing long QT syndrome in an Israeli family.

Isr Med Assoc J 2008 Nov;10(11):809-11

Department of Medical Genetics, Rabin Medical Center (Beilinson Campus), Petah Tikva, Israel.

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November 2008

Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome.

Isr Med Assoc J 2007 Dec;9(12):847-50

Recanti Genetic Institute, Department of Medical Genetics, Rabin Medical Center (Beilinson Campus), Petah Tikva, Israel.

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December 2007

Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel.

Eur J Hum Genet 2007 Feb 6;15(2):250-3. Epub 2006 Dec 6.

Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.

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http://dx.doi.org/10.1038/sj.ejhg.5201750DOI Listing
February 2007

Amniotic trisomy 11 mosaicism--is it a benign finding?

Prenat Diagn 2006 Sep;26(9):778-81

Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tiqva, Israel.

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http://doi.wiley.com/10.1002/pd.1501
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http://dx.doi.org/10.1002/pd.1501DOI Listing
September 2006

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.

Ann Neurol 2006 Aug;60(2):214-22

Department of Medical Genetics, Schneider Children's Medical Center of Israel and Rabin Medical Center, Petah Tikva, Israel.

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http://dx.doi.org/10.1002/ana.20902DOI Listing
August 2006

Myotonic dystrophy--no evidence for preferential transmission of the mutated allele: a prenatal analysis.

Am J Med Genet A 2004 May;127A(1):50-3

Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel.

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http://dx.doi.org/10.1002/ajmg.a.20675DOI Listing
May 2004

Plasma homocysteine, methylenetetrahydrofolate reductase genotypes, and age at onset of symptoms of myocardial ischemia.

Am J Cardiol 2002 Apr;89(8):919-23

Department of Cardiology, Rabin Medical Center-Beilinson Campus and Felsenstein Medical Research Center, Petah Tiqva, Israel.

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http://dx.doi.org/10.1016/s0002-9149(02)02239-7DOI Listing
April 2002