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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 population
Mordechai 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 population
Judeh 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 mutations
Johane 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 families
Zippora Brownstein, Lilach M Friedman, Hashem Shahin, et al.
American Journal of Human Genetics
|
June 22, 2010
Mutations in HPSE2 cause urofacial syndrome
Sarah 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 Morphogenesis
Alon 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 population
Janan 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 syndrome
Tzipora 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. Online
Rana 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 CEP104
Myriam Srour, Fadi F Hamdan, Dianalee McKnight, et al.
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of 6
Search research articles
Search
Showing results (41-50 of 53) with videos related to
Sort By:
Page
of 6
American Journal of Medical Genetics. Part A
|
September 11, 2003
Prenatal diagnosis of Down syndrome: ten year experience in the Israeli population
Mordechai 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 population
Judeh 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 mutations
Johane 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 families
Zippora Brownstein, Lilach M Friedman, Hashem Shahin, et al.
American Journal of Human Genetics
|
June 22, 2010
Mutations in HPSE2 cause urofacial syndrome
Sarah 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 Morphogenesis
Alon 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 population
Janan 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 syndrome
Tzipora 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. Online
Rana 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 CEP104
Myriam Srour, Fadi F Hamdan, Dianalee McKnight, et al.
Page
of 6