Hasil Pencarian - Hélène Dollfus

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  1. 1
    Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation

    Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation oleh Laura Mauring, Louise Frances Porter, Louise Frances Porter, Valerie Pelletier, Axelle Riehm, Anne-Sophie Leuvrey, Aurélie Gouronc, Fouzia Studer, Corinne Stoetzel, Helene Dollfus, Helene Dollfus, Helene Dollfus, Jean Muller, Jean Muller

    Diterbitkan 2020-08-01
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  2. 2
    Neurotrophic Keratitis Due to Congenital Corneal Anesthesia with Deafness, Hypotonia, Intellectual Disability, Face Abnormality and Metabolic Disorder: A New Syndrome?

    Neurotrophic Keratitis Due to Congenital Corneal Anesthesia with Deafness, Hypotonia, Intellectual Disability, Face Abnormality and Metabolic Disorder: A New Syndrome? oleh Arvydas Gelzinis, Dovile Simonaviciute, Agne Krucaite, Luca Buzzonetti, Hélène Dollfus, Reda Zemaitiene

    Diterbitkan 2022-05-01
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  3. 3
    Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

    Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome oleh Elise Schaefer, Elise Schaefer, Clarisse Delvallée, Laura Mary, Corinne Stoetzel, Véronique Geoffroy, Caroline Marks-Delesalle, Muriel Holder-Espinasse, Jamal Ghoumid, Hélène Dollfus, Hélène Dollfus, Jean Muller, Jean Muller

    Diterbitkan 2019-01-01
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  4. 4
    A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta

    A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta oleh Virginie Laugel-Haushalter, Séverine Bär, Elise Schaefer, Elise Schaefer, Corinne Stoetzel, Véronique Geoffroy, Yves Alembik, Naji Kharouf, Naji Kharouf, Mathilde Huckert, Pauline Hamm, Joseph Hemmerlé, Joseph Hemmerlé, Marie-Cécile Manière, Marie-Cécile Manière, Sylvie Friant, Hélène Dollfus, Hélène Dollfus, Hélène Dollfus, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Agnès Bloch-Zupan

    Diterbitkan 2019-05-01
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  5. 5
    Response to comment on: Could internal limiting membrane peeling before Voretigen Neparvovec-ryzl subretinal injection prevent focal chorioretinal atrophy?

    Response to comment on: Could internal limiting membrane peeling before Voretigen Neparvovec-ryzl subretinal injection prevent focal chorioretinal atrophy? oleh Lea Dormegny, Fouzia Studer, Arnaud Sauer, Laurent Ballonzoli, Claude Speeg-Schatz, Tristan Bourcier, Helene Dollfus, David Gaucher

    Diterbitkan 2024-10-01
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  6. 6
    Could internal limiting membrane peeling before Voretigen neparvovec-ryzl subretinal injection prevent focal chorioretinal atrophy?

    Could internal limiting membrane peeling before Voretigen neparvovec-ryzl subretinal injection prevent focal chorioretinal atrophy? oleh Lea Dormegny, Fouzia Studer, Arnaud Sauer, Laurent Ballonzoli, Claude Speeg-Schatz, Tristan Bourcier, Helene Dollfus, David Gaucher

    Diterbitkan 2024-02-01
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  7. 7
    Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

    Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning oleh Virginie Laugel-Haushalter, Supawich Morkmued, Supawich Morkmued, Corinne Stoetzel, Véronique Geoffroy, Jean Muller, Jean Muller, Anne Boland, Jean-François Deleuze, Kirsley Chennen, Kirsley Chennen, Waranuch Pitiphat, Hélène Dollfus, Hélène Dollfus, Karen Niederreither, Karen Niederreither, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Patimaporn Pungchanchaikul

    Diterbitkan 2018-09-01
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  8. 8
    Correction to: An ontological foundation for ocular phenotypes and rare eye diseases

    Correction to: An ontological foundation for ocular phenotypes and rare eye diseases oleh Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus, for the ERN-EYE Ontology Study Group

    Diterbitkan 2019-08-01
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  9. 9
    An ontological foundation for ocular phenotypes and rare eye diseases

    An ontological foundation for ocular phenotypes and rare eye diseases oleh Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus, for the ERN-EYE Ontology Study Group

    Diterbitkan 2019-01-01
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  10. 10
    Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma

    Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family rais... oleh Raphaëlle Goussot, MD, Megana Prasad, MD, Corinne Stoetzel, MD, Cédric Lenormand, MD, PhD, Hélène Dollfus, MD, PhD, Dan Lipsker, MD, PhD

    Diterbitkan 2017-03-01
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  11. 11
    Characterization of SSBP1-related optic atrophy and foveopathy

    Characterization of SSBP1-related optic atrophy and foveopathy oleh Isabelle Meunier, Béatrice Bocquet, Sabine Defoort-Dhellemmes, Vasily Smirnov, Carl Arndt, Marie Christine Picot, Hélène Dollfus, Majida Charif, Isabelle Audo, Hélèna Huguet, Xavier Zanlonghi, Guy Lenaers

    Diterbitkan 2021-09-01
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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
    Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results

    Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results oleh Elizabeth Forsythe, Robert M. Haws, Jesús Argente, Philip Beales, Gabriel Á. Martos-Moreno, Hélène Dollfus, Costel Chirila, Ari Gnanasakthy, Brieana C. Buckley, Usha G. Mallya, Karine Clément, Andrea M. Haqq

    Diterbitkan 2023-01-01
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  14. 14
    Magnetically Assisted Drug Delivery of Topical Eye Drops Maintains Retinal Function In Vivo in Mice

    Magnetically Assisted Drug Delivery of Topical Eye Drops Maintains Retinal Function In Vivo in Mice oleh Marco Bassetto, Daniel Ajoy, Florent Poulhes, Cathy Obringer, Aurelie Walter, Nadia Messadeq, Amir Sadeghi, Jooseppi Puranen, Marika Ruponen, Mikko Kettunen, Elisa Toropainen, Arto Urtti, Hélène Dollfus, Olivier Zelphati, Vincent Marion

    Diterbitkan 2021-10-01
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  15. 15
    A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

    A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi oleh Corinne Stoetzel, Séverine Bär, Johan-Owen De Craene, Sophie Scheidecker, Christelle Etard, Johana Chicher, Jennifer R. Reck, Isabelle Perrault, Véronique Geoffroy, Kirsley Chennen, Uwe Strähle, Philippe Hammann, Sylvie Friant, Hélène Dollfus

    Diterbitkan 2016-11-01
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  16. 16
    Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with <i>MFSD8</i> Variants

    Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with <i>MFSD8</i> Variants oleh Anaïs F. Poncet, Olivier Grunewald, Veronika Vaclavik, Isabelle Meunier, Isabelle Drumare, Valérie Pelletier, Béatrice Bocquet, Margarita G. Todorova, Anne-Gaëlle Le Moing, Aurore Devos, Daniel F. Schorderet, Florence Jobic, Sabine Defoort-Dhellemmes, Hélène Dollfus, Vasily M. Smirnov, Claire-Marie Dhaenens

    Diterbitkan 2022-04-01
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  17. 17
    WGS Revealed Novel <i>BBS5</i> Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

    WGS Revealed Novel <i>BBS5</i> Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects oleh Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Génin, Richard Redon, Florian Sandron, Anne Boland, Jean-François Deleuze, Nicolas Le May, Hélène Dollfus, Jean Muller

    Diterbitkan 2023-05-01
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  18. 18
    The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes <i>MYO7A</i> and <i>USH2A</i>

    The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes <i>MYO7A</i> and <i>USH2A</i> oleh Luke Mansard, David Baux, Christel Vaché, Catherine Blanchet, Isabelle Meunier, Marjolaine Willems, Valérie Faugère, Corinne Baudoin, Melody Moclyn, Julie Bianchi, Helene Dollfus, Brigitte Gilbert-Dussardier, Delphine Dupin-Deguine, Dominique Bonneau, Isabelle Drumare, Sylvie Odent, Xavier Zanlonghi, Mireille Claustres, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux

    Diterbitkan 2021-12-01
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  19. 19
    Novel <i>TTLL5</i> Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

    Novel <i>TTLL5</i> Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy oleh Vasily Smirnov, Olivier Grunewald, Jean Muller, Christina Zeitz, Carolin D. Obermaier, Aurore Devos, Valérie Pelletier, Béatrice Bocquet, Camille Andrieu, Jean-Louis Bacquet, Elodie Lebredonchel, Saddek Mohand-Saïd, Sabine Defoort-Dhellemmes, José-Alain Sahel, Hélène Dollfus, Xavier Zanlonghi, Isabelle Audo, Isabelle Meunier, Elise Boulanger-Scemama, Claire-Marie Dhaenens

    Diterbitkan 2021-06-01
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  20. 20
    Functional Characterization of Splice Variants in the Diagnosis of Albinism

    Functional Characterization of Splice Variants in the Diagnosis of Albinism oleh Modibo Diallo, Cécile Courdier, Elina Mercier, Angèle Sequeira, Alicia Defay-Stinat, Claudio Plaisant, Shahram Mesdaghi, Daniel Rigden, Sophie Javerzat, Eulalie Lasseaux, Laetitia Bourgeade, Séverine Audebert-Bellanger, Hélène Dollfus, Smail Hadj-Rabia, Fanny Morice-Picard, Manon Philibert, Mohamed Kole Sidibé, Vasily Smirnov, Ousmane Sylla, Vincent Michaud, Benoit Arveiler

    Diterbitkan 2024-08-01
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