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Stavit Shalev

Showing results (41-50 of 53) with videos related to

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American Journal of Medical Genetics. Part A|September 11, 2003
Prenatal diagnosis of Down syndrome: ten year experience in the Israeli populationMordechai Shohat, Helena Frimer, Vered Shohat-Levy, et al.
The Journal of Investigative Dermatology|January 28, 2006
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern populationJudeh Abu Sa'd, Margarita Indelman, Ellen Pfendner, et al.
JAMA Ophthalmology|August 16, 2014
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutationsJohane M Robitaille, Roxanne M Gillett, Marissa A LeBlanc, et al.
Genome Biology|September 16, 2011
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern familiesZippora Brownstein, Lilach M Friedman, Hashem Shahin, et al.
American Journal of Human Genetics|June 22, 2010
Mutations in HPSE2 cause urofacial syndromeSarah B Daly, Jill E Urquhart, Emma Hilton, et al.
Plos Genetics|October 14, 2016
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle MorphogenesisAlon Peled, Ofer Sarig, Liat Samuelov, et al.
Experimental Dermatology|March 31, 2021
Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern populationJanan Mohamad, Liat Samuelov, Natalia Malchin, et al.
EMBO Molecular Medicine|January 11, 2017
Sequence variation in <i>PPP1R13L</i> results in a novel form of cardio-cutaneous syndromeTzipora C Falik-Zaccai, Yiftah Barsheshet, Hanna Mandel, et al.
Human Mutation|April 3, 2007
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. OnlineRana Khaddour, Ursula Smith, Lekbir Baala, et al.
American Journal of Human Genetics|October 20, 2015
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Myriam Srour, Fadi F Hamdan, Dianalee McKnight, et al.
Pageof 6

Showing results (41-50 of 53) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|September 11, 2003
Prenatal diagnosis of Down syndrome: ten year experience in the Israeli populationMordechai Shohat, Helena Frimer, Vered Shohat-Levy, et al.
The Journal of Investigative Dermatology|January 28, 2006
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern populationJudeh Abu Sa'd, Margarita Indelman, Ellen Pfendner, et al.
JAMA Ophthalmology|August 16, 2014
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutationsJohane M Robitaille, Roxanne M Gillett, Marissa A LeBlanc, et al.
Genome Biology|September 16, 2011
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern familiesZippora Brownstein, Lilach M Friedman, Hashem Shahin, et al.
American Journal of Human Genetics|June 22, 2010
Mutations in HPSE2 cause urofacial syndromeSarah B Daly, Jill E Urquhart, Emma Hilton, et al.
Plos Genetics|October 14, 2016
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle MorphogenesisAlon Peled, Ofer Sarig, Liat Samuelov, et al.
Experimental Dermatology|March 31, 2021
Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern populationJanan Mohamad, Liat Samuelov, Natalia Malchin, et al.
EMBO Molecular Medicine|January 11, 2017
Sequence variation in <i>PPP1R13L</i> results in a novel form of cardio-cutaneous syndromeTzipora C Falik-Zaccai, Yiftah Barsheshet, Hanna Mandel, et al.
Human Mutation|April 3, 2007
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. OnlineRana Khaddour, Ursula Smith, Lekbir Baala, et al.
American Journal of Human Genetics|October 20, 2015
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Myriam Srour, Fadi F Hamdan, Dianalee McKnight, et al.
Pageof 6