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Showing results (211-220 of 228) with videos related to

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Human Mutation|July 5, 2001
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasiaA Taillandier, A S Lia-Baldini, M Mouchard, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndromeDamien Sanlaville, David Genevieve, Céline Bernardin, et al.
Human Mutation|February 24, 2009
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndromeLoïc de Pontual, Yves Mathieu, Christelle Golzio, et al.
Cancer Discovery|March 2, 2023
Integrative Pan-Cancer Genomic and Transcriptomic Analyses of Refractory Metastatic CancerYoann Pradat, Julien Viot, Andrey A Yurchenko, et al.
Human Mutation|October 28, 2010
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia casesCéline Cluzeau, Smail Hadj-Rabia, Marguerite Jambou, et al.
European Journal of Medical Genetics|January 10, 2012
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndromeChloé Quélin, Philippe Loget, Alain Verloes, et al.
Human Mutation|June 25, 2019
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutationsEnzo Cohen, Sabrina Belkacem, Soumeya Fedala, et al.
Clinical Genetics|September 26, 2015
Fetal phenotypes in otopalatodigital spectrum disordersS Naudion, S Moutton, I Coupry, et al.
Human Mutation|June 17, 2015
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional CharacterizationFrederic Brioude, Irène Netchine, Francoise Praz, 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.
Pageof 23

Showing results (211-220 of 228) with videos related to

Sort By:
Pageof 23
Human Mutation|July 5, 2001
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasiaA Taillandier, A S Lia-Baldini, M Mouchard, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndromeDamien Sanlaville, David Genevieve, Céline Bernardin, et al.
Human Mutation|February 24, 2009
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndromeLoïc de Pontual, Yves Mathieu, Christelle Golzio, et al.
Cancer Discovery|March 2, 2023
Integrative Pan-Cancer Genomic and Transcriptomic Analyses of Refractory Metastatic CancerYoann Pradat, Julien Viot, Andrey A Yurchenko, et al.
Human Mutation|October 28, 2010
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia casesCéline Cluzeau, Smail Hadj-Rabia, Marguerite Jambou, et al.
European Journal of Medical Genetics|January 10, 2012
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndromeChloé Quélin, Philippe Loget, Alain Verloes, et al.
Human Mutation|June 25, 2019
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutationsEnzo Cohen, Sabrina Belkacem, Soumeya Fedala, et al.
Clinical Genetics|September 26, 2015
Fetal phenotypes in otopalatodigital spectrum disordersS Naudion, S Moutton, I Coupry, et al.
Human Mutation|June 17, 2015
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional CharacterizationFrederic Brioude, Irène Netchine, Francoise Praz, 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.
Pageof 23