Hasil Pencarian - Stanislas Lyonnet

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  1. 1
    Determinants of dental care use in patients with rare diseases: a qualitative exploration

    Determinants of dental care use in patients with rare diseases: a qualitative exploration oleh Lisa Friedlander, Ariane Berdal, Valérie Cormier-Daire, Stanislas Lyonnet, Nicolas Garcelon

    Diterbitkan 2023-06-01
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  2. 2
    GeneRetriever: software to extract all genes and transcripts in between two genetic markers to assist design of human custom microarrays

    GeneRetriever: software to extract all genes and transcripts in between two genetic markers to assist design of human custom microarrays oleh Mathieu Clément-Ziza, Yehuda Brody, Arnold Munnich, Stanislas Lyonnet, Claude Besmond

    Diterbitkan 2005-08-01
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  3. 3
    Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method

    Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method oleh Lisa Friedlander, Marc Vincent, Ariane Berdal, Valérie Cormier-Daire, Stanislas Lyonnet, Nicolas Garcelon

    Diterbitkan 2022-08-01
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  4. 4
    Diagnosis support systems for rare diseases: a scoping review

    Diagnosis support systems for rare diseases: a scoping review oleh Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Antoine Neuraz, Bertrand Knebelmann, Rémi Salomon, Stanislas Lyonnet, Sophie Saunier, Anita Burgun

    Diterbitkan 2020-04-01
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  5. 5
    Nuclear outsourcing of RNA interference components to human mitochondria.

    Nuclear outsourcing of RNA interference components to human mitochondria. oleh Simonetta Bandiera, Silvia Rüberg, Muriel Girard, Nicolas Cagnard, Sylvain Hanein, Dominique Chrétien, Arnold Munnich, Stanislas Lyonnet, Alexandra Henrion-Caude

    Diterbitkan 2011-01-01
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  6. 6
    ISL1 directly regulates FGF10 transcription during human cardiac outflow formation.

    ISL1 directly regulates FGF10 transcription during human cardiac outflow formation. oleh Christelle Golzio, Emmanuelle Havis, Philippe Daubas, Gregory Nuel, Candice Babarit, Arnold Munnich, Michel Vekemans, Stéphane Zaffran, Stanislas Lyonnet, Heather C Etchevers

    Diterbitkan 2012-01-01
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  7. 7
    Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human

    Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human oleh Jean Marie Delalande, Jean Marie Delalande, Nandor Nagy, Conor J. McCann, Dipa Natarajan, Julie E. Cooper, Gabriela Carreno, David Dora, Alison Campbell, Nicole Laurent, Polychronis Kemos, Sophie Thomas, Caroline Alby, Tania Attié-Bitach, Tania Attié-Bitach, Tania Attié-Bitach, Stanislas Lyonnet, Stanislas Lyonnet, Stanislas Lyonnet, Malcolm P. Logan, Allan M. Goldstein, Megan G. Davey, Robert M. W. Hofstra, Nikhil Thapar, Nikhil Thapar, Alan J. Burns, Alan J. Burns, Alan J. Burns

    Diterbitkan 2022-04-01
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  8. 8
    TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human

    TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human oleh Jean Marie Delalande, Jean Marie Delalande, Nandor Nagy, Conor J. McCann, Dipa Natarajan, Julie E. Cooper, Gabriela Carreno, David Dora, Alison Campbell, Nicole Laurent, Polychronis Kemos, Sophie Thomas, Caroline Alby, Tania Attié-Bitach, Tania Attié-Bitach, Tania Attié-Bitach, Stanislas Lyonnet, Stanislas Lyonnet, Stanislas Lyonnet, Malcolm P. Logan, Allan M. Goldstein, Megan G. Davey, Robert M. W. Hofstra, Nikhil Thapar, Nikhil Thapar, Alan J. Burns, Alan J. Burns, Alan J. Burns

    Diterbitkan 2021-12-01
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  9. 9
    Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.

    Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia. oleh Simonetta Bandiera, François Cartault, Anne-Sophie Jannot, Elie Hatem, Muriel Girard, Laila Rifai, Clemence Loiseau, Arnold Munnich, Stanislas Lyonnet, Alexandra Henrion-Caude

    Diterbitkan 2013-01-01
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  10. 10
    Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients

    Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients oleh Véronique Abadie, Priscilla Hamiaux, Stéphanie Ragot, Marine Legendre, Gaelle Malecot, Alexia Burtin, Tania Attie-Bitach, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert-Dussardier, Laurence Vaivre-Douret

    Diterbitkan 2020-06-01
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  11. 11
    Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish.

    Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish. oleh Shipra Bhatia, Christopher T Gordon, Robert G Foster, Lucie Melin, Véronique Abadie, Geneviève Baujat, Marie-Paule Vazquez, Jeanne Amiel, Stanislas Lyonnet, Veronica van Heyningen, Dirk A Kleinjan

    Diterbitkan 2015-06-01
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  12. 12
    Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study

    Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study oleh Christine Binquet, Christine Binquet, Catherine Lejeune, Catherine Lejeune, Catherine Lejeune, Laurence Faivre, Laurence Faivre, Laurence Faivre, Marion Bouctot, Marie-Laure Asensio, Alban Simon, Jean-François Deleuze, Anne Boland, Francis Guillemin, Valérie Seror, Christelle Delmas, Hélène Espérou, Yannis Duffourd, Yannis Duffourd, Stanislas Lyonnet, Stanislas Lyonnet, Sylvie Odent, Delphine Heron, Damien Sanlaville, Thierry Frebourg, Thierry Frebourg, Bénédicte Gerard, Hélène Dollfus, Hélène Dollfus

    Diterbitkan 2022-02-01
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  13. 13
    Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies

    Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies oleh Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Mohamad Zaidan, Katy Billot, Friederike Petzold, Hassan Faour, Maxime Douillet, Jean-Michel Rozet, Valérie Cormier-Daire, Tania Attié-Bitach, Stanislas Lyonnet, Sophie Saunier, Anita Burgun

    Diterbitkan 2024-05-01
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  14. 14
    Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Support Ciliopathy Diagnosis

    Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Support Ciliopathy Diagnosis oleh Xiaoyi Chen, Xiaoyi Chen, Xiaoyi Chen, Carole Faviez, Carole Faviez, Marc Vincent, Luis Briseño-Roa, Hassan Faour, Jean-Philippe Annereau, Stanislas Lyonnet, Mohamad Zaidan, Sophie Saunier, Nicolas Garcelon, Nicolas Garcelon, Nicolas Garcelon, Anita Burgun, Anita Burgun, Anita Burgun

    Diterbitkan 2022-03-01
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  15. 15
    Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.

    Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease. oleh Anne-Sophie Jannot, Anna Pelet, Alexandra Henrion-Caude, Asma Chaoui, Marine Masse-Morel, Stacey Arnold, Damien Sanlaville, Isabella Ceccherini, Salud Borrego, Robert M W Hofstra, Arnold Munnich, Nadège Bondurand, Aravinda Chakravarti, Françoise Clerget-Darpoux, Jeanne Amiel, Stanislas Lyonnet

    Diterbitkan 2013-01-01
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  16. 16
    AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes

    AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes oleh Quentin Hennocq, Quentin Hennocq, Quentin Hennocq, Thomas Bongibault, Thomas Bongibault, Sandrine Marlin, Sandrine Marlin, Jeanne Amiel, Jeanne Amiel, Tania Attie-Bitach, Tania Attie-Bitach, Geneviève Baujat, Geneviève Baujat, Lucile Boutaud, Georges Carpentier, Pierre Corre, Pierre Corre, Françoise Denoyelle, François Djate Delbrah, Maxime Douillet, Eva Galliani, Wuttichart Kamolvisit, Wuttichart Kamolvisit, Stanislas Lyonnet, Stanislas Lyonnet, Dan Milea, Véronique Pingault, Véronique Pingault, Thantrira Porntaveetus, Thantrira Porntaveetus, Sandrine Touzet-Roumazeille, Marjolaine Willems, Arnaud Picard, Marlène Rio, Marlène Rio, Nicolas Garcelon, Roman H. Khonsari, Roman H. Khonsari, Roman H. Khonsari

    Diterbitkan 2023-08-01
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  17. 17
    The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol

    The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol oleh Catherine Lejeune, Catherine Lejeune, Charley Robert-Viard, Charley Robert-Viard, Nicolas Meunier-Beillard, Nicolas Meunier-Beillard, Myriam Alice Borel, Léna Gourvès, Stéphanie Staraci, Anne-Laure Soilly, Francis Guillemin, Valerie Seror, Hamza Achit, Marion Bouctot, Marie-Laure Asensio, Anne-Sophie Briffaut, Christelle Delmas, Ange-Line Bruel, Alexia Benoit, Alban Simon, Bénédicte Gerard, Hamza Hadj Abdallah, Hamza Hadj Abdallah, Stanislas Lyonnet, Stanislas Lyonnet, Laurence Faivre, Christel Thauvin-Robinet, Sylvie Odent, Delphine Heron, Damien Sanlaville, Thierry Frebourg, Thierry Frebourg, Jean Muller, Jean Muller, Jean Muller, Yannis Duffourd, Anne Boland, Jean-François Deleuze, Hélène Espérou, Christine Binquet, Hélène Dollfus

    Diterbitkan 2022-04-01
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  18. 18
    Anatomical and functional abnormalities on MRI in kabuki syndrome

    Anatomical and functional abnormalities on MRI in kabuki syndrome oleh Jennifer Boisgontier, Jean Marc Tacchella, Hervé Lemaître, Natacha Lehman, Ana Saitovitch, Vincent Gatinois, Guilaine Boursier, Elodie Sanchez, Elza Rechtman, Ludovic Fillon, Stanislas Lyonnet, Kim-Hanh Le Quang Sang, Genevieve Baujat, Marlene Rio, Odile Boute, Laurence Faivre, Elise Schaefer, Damien Sanlaville, Monica Zilbovicius, David Grévent, David Geneviève, Nathalie Boddaert

    Diterbitkan 2019-01-01
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  19. 19
    Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome

    Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome oleh Quentin Hennocq, Marjolaine Willems, Jeanne Amiel, Stéphanie Arpin, Tania Attie-Bitach, Thomas Bongibault, Thomas Bouygues, Valérie Cormier-Daire, Pierre Corre, Klaus Dieterich, Maxime Douillet, Jean Feydy, Eva Galliani, Fabienne Giuliano, Stanislas Lyonnet, Arnaud Picard, Thantrira Porntaveetus, Marlène Rio, Flavien Rouxel, Vorasuk Shotelersuk, Annick Toutain, Kevin Yauy, David Geneviève, Roman H. Khonsari, Nicolas Garcelon

    Diterbitkan 2024-01-01
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  20. 20
    Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.

    Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development. oleh Laura E Kuil, Katherine C MacKenzie, Clara S Tang, Jonathan D Windster, Thuy Linh Le, Anwarul Karim, Bianca M de Graaf, Robert van der Helm, Yolande van Bever, Cornelius E J Sloots, Conny Meeussen, Dick Tibboel, Annelies de Klein, René M H Wijnen, Jeanne Amiel, Stanislas Lyonnet, Maria-Mercè Garcia-Barcelo, Paul K H Tam, Maria M Alves, Alice S Brooks, Robert M W Hofstra, Erwin Brosens

    Diterbitkan 2021-08-01
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