検索結果 - Saïd El Shamieh

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  1. 1
    Epistatic study reveals two genetic interactions in blood pressure regulation

    Epistatic study reveals two genetic interactions in blood pressure regulation 著者: Ndiaye, Ndeye Coumba, Said, El Shamieh, Stathopoulou, Maria G, Siest, Gérard, Tsai, Michael Y, Visvikis-Siest, Sophie

    出版事項 2013
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  2. 2
    Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB)

    Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB) 著者: Marion Neuillé, Saïd El Shamieh, Elise Orhan, Christelle Michiels, Aline Antonio, Marie‐Elise Lancelot, Christel Condroyer, Kinga M. Bujakowska, Olivier Poch, José‐Alain Sahel, Isabelle Audo, Christina Zeitz

    出版事項 2014
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    Artigo
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  3. 3
    <i>MERTK</i> mutation update in inherited retinal diseases

    <i>MERTK</i> mutation update in inherited retinal diseases 著者: Isabelle Audo, Saddek Mohand‐Saïd, Élise Boulanger-Scemama, Xavier Zanlonghi, Christel Condroyer, Vanessa Démontant, Fiona Boyard, Aline Antonio, Cécile Méjécase, Saïd El Shamieh, José‐Alain Sahel, Christina Zeitz

    出版事項 2018
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  4. 4
    Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to<i>CLN3</i>Pathogenic Variants in a French Retinitis Pigmentosa Cohort

    Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to<i>CLN3</i>Pathogenic Variants in a French Retinitis Pigmentosa Cohort 著者: Vasily Smirnov, Marco Nassisi, Cyntia Solis Hernandez, Cécile Méjécase, Saïd El Shamieh, Christel Condroyer, Aline Antonio, Isabelle Meunier, Camille Andrieu, Sabine Defoort‐Dhellemmes, Saddek Mohand‐Saïd, José‐Alain Sahel, Isabelle Audo, Christina Zeitz

    出版事項 2021
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    Artigo
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  5. 5
    Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

    Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation 著者: Élise Boulanger-Scemama, Saïd El Shamieh, Vanessa Démontant, Christel Condroyer, Aline Antonio, Christelle Michiels, Fiona Boyard, Jean‐Paul Saraiva, Mélanie Letexier, Eric H. Souied, Saddek Mohand‐Saïd, José‐Alain Sahel, Christina Zeitz, Isabelle Audo

    出版事項 2015
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    Artigo
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  6. 6
    Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome

    Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome 著者: Leonardo Colombo, Paolo Enrico Maltese, Marco Castori, Saïd El Shamieh, Christina Zeitz, Isabelle Audo, Alessandra Zulian, Carla Marinelli, Sabrina Benedetti, Alisia Costantini, Simone Bressan, Marcella Percio, P Ferri, Andi Abeshi, Matteo Bertelli, Luca Rossetti

    出版事項 2021
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    Artigo
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  7. 7
    Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy

    Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy 著者: Saïd El Shamieh, Marion Neuillé, Angélique Terray, Elise Orhan, Christel Condroyer, Vanessa Démontant, Christelle Michiels, Aline Antonio, Fiona Boyard, Marie‐Elise Lancelot, Mélanie Letexier, Jean‐Paul Saraiva, Thierry Léveillard, Saddek Mohand‐Saïd, Olivier Goureau, José‐Alain Sahel, Christina Zeitz, Isabelle Audo

    出版事項 2014
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    Artigo
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  8. 8
    Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy

    Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy 著者: Christina Zeitz, Julien Navarro, Leila Azizzadeh Pormehr, Cécile Méjécase, Luiza M. Neves, Camille Letellier, Christel Condroyer, Shahad Albadri, Andréa Amprou, Aline Antonio, Tasnim Ben Yacoub, Juliette Wohlschlegel, Camille Andrieu, Malo Serafini, Lorenzo Bianco, Alessio Antropoli, Marco Nassisi, Saïd El Shamieh, Sandra Chantot‐Bastaraud, Saddek Mohand‐Saïd, Vasily Smirnov, José‐Alain Sahel, Filippo Del Bene, Isabelle Audo

    出版事項 2024
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    Artigo
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  9. 9
    Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans

    Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans 著者: Massimo Mangino, Shih-Jen Hwang, Timothy D. Spector, Steven C. Hunt, Masayuki Kimura, Annette L. Fitzpatrick, Lene Christiansen, Inge Petersen, Clara C. Elbers, Tamara Harris, Wei Chen, Sathanur R. Srinivasan, Jeremy D. Kark, Athanase Bénétos, Saïd El Shamieh, Sophie Visvikis‐Siest, Kaare Christensen, Gerald S. Berenson, Ana M. Valdes, Ana Viñuela, Melissa García, Donna K. Arnett, Ulrich Broeckel, Michael A. Province, James S. Pankow, Candace M. Kammerer, Yongmei Liu, Michael A. Nalls, Sarah A. Tishkoff, Fridtjof Thomas, Elad Ziv, Bruce M. Psaty, Joshua C. Bis, Jerome I. Rotter, Kent D. Taylor, Erin N. Smith, Nicholas J. Schork, Daniel Levy, Abraham Aviv

    出版事項 2012
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