खोज परिणाम - Louise Ocaka

  • प्रदर्शित 1 - 10 परिणाम 10
परिणाम को परिष्कृत करें
  1. 1
    The genetic landscape of crystallins in congenital cataract

    The genetic landscape of crystallins in congenital cataract द्वारा Vanita Berry, Alex Ionides, Nikolas Pontikos, Michalis Georgiou, Jing Yu, Louise Ocaka, Anthony T. Moore, Roy A. Quinlan, Michel Michaelides

    प्रकाशित 2020
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  2. 2
    Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis

    Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis द्वारा Jochen Kammermeier, Suzanne Drury, Chela James, Robert Dziubak, Louise Ocaka, Mamoun Elawad, Philip L. Beales, Nicholas Lench, Holm H. Uhlig, Chiara Bacchelli, Neil Shah

    प्रकाशित 2014
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  3. 3
    STAG3 truncating variant as the cause of primary ovarian insufficiency

    STAG3 truncating variant as the cause of primary ovarian insufficiency द्वारा Polona Le Quesne Stabej, Hywel Williams, Chela James, Mehmet Tekman, Horia Stanescu, Robert Kleta, Louise Ocaka, Francesco Lescai, Helen L. Storr, Maria Bitner‐Glindzicz, Chiara Bacchelli, Gerard S. Conway

    प्रकाशित 2015
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  4. 4
    Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma

    Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma द्वारा Ordan J. Lehmann, Neil D. Ebenezer, Tim Jordan, Margaret Fox, Louise Ocaka, Annette Payne, Bart P. Leroy, Brian J. Clark, Roger A. Hitchings, Sue Povey, Peng T. Khaw, Shomi S. Bhattacharya

    प्रकाशित 2000
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  5. 5
    COLEC10 is mutated in 3MC patients and regulates early craniofacial development

    COLEC10 is mutated in 3MC patients and regulates early craniofacial development द्वारा Mustafa M. Munye, Anna Dı́az-Font, Louise Ocaka, Maiken L. Henriksen, Melissa Lees, Angela Brady, Dagan Jenkins, Jenny Morton, Søren Hansen, Chiara Bacchelli, Philip L. Beales, Víctor Hernández-Hernández

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  6. 6
    Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy

    Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy द्वारा Stephanie Halford, Gerald Liew, Donna S. Mackay, Panagiotis I. Sergouniotis, Richard Holt, Suzanne Broadgate, Emanuela V. Volpi, Louise Ocaka, Anthony G. Robson, Graham E. Holder, Anthony T. Moore, Michel Michaelides, Andrew R. Webster

    प्रकाशित 2014
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  7. 7
    Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

    Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children द्वारा Lamia Mestek, Emma Clement, Wendy D. Jones, Suzanne Drury, Louise Ocaka, Andrey Gagunashvili, Polona Le Quesne Stabej, Chiara Bacchelli, Nital Jani, Shamima Rahman, Lucy Jenkins, Jane A. Hurst, Maria Bitner‐Glindzicz, Mark Peters, Philip L. Beales, Hywel Williams

    प्रकाशित 2018
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  8. 8
    The kinetochore protein,<i>CENPF</i>, is mutated in human ciliopathy and microcephaly phenotypes

    The kinetochore protein,<i>CENPF</i>, is mutated in human ciliopathy and microcephaly phenotypes द्वारा Aoife Waters, Rowan Asfahani, Paula Carroll, Louise S. Bicknell, Francesco Lescai, Alison Bright, Estelle Chanudet, Anthony G. Brooks, Sonja Christou-Savina, Guled A. Osman, Patrick R. Walsh, Chiara Bacchelli, Ariane Chapgier, Bertrand Vernay, David M. Bader, Charu Deshpande, Mary O’ Sullivan, Louise Ocaka, Horia Stanescu, Helen Stewart, Friedhelm Hildebrandt, Edgar A. Otto, Colin A. Johnson, Katarzyna Szymańska, Nicholas Katsanis, Erica E. Davis, Robert Kleta, Michael Hubank, Stephen Doxsey, Andrew P. Jackson, Elia Stupka, Mark Winey, Philip L. Beales

    प्रकाशित 2015
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  9. 9
    Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

    Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome द्वारा Anna Thomas, Hywel Williams, Núria Setó‐Salvia, Chiara Bacchelli, Dagan Jenkins, Mary E. O’Sullivan, Konstantinos Mengrelis, Miho Ishida, Louise Ocaka, Estelle Chanudet, Chela James, Francesco Lescai, Glenn Anderson, Deborah Morrogh, Mina Ryten, Andrew Duncan, Yun Jin Pai, Jorge Saraiva, Fabiana Ramos, Bernadette Farren, Dawn E. Saunders, Bertrand Vernay, Paul Gissen, Anna Straatmaan-Iwanowska, Frank Baas, Nicholas Wood, Joshua Hersheson, Henry Houlden, Jane A. Hurst, Richard H. Scott, Maria Bitner‐Glindzicz, Gudrun E. Moore, Sérgio B. Sousa, Philip Stanier

    प्रकाशित 2014
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  10. 10
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome द्वारा Machteld M. Oud, Paul Tuijnenburg, Maja Hempel, Naomi van Vlies, Zemin Ren, Sacha Ferdinandusse, Machiel H. Jansen, René Santer, Jessika Johannsen, Chiara Bacchelli, Mariëlle Alders, Rui Li, Rosalind Davies, Lucie Dupuis, Catherine M. Cale, Ronald J. A. Wanders, Steven T. Pals, Louise Ocaka, Chela James, Ingo Müller, Kai Lehmberg, Tim M. Strom, Hartmut Engels, Hywel Williams, Phil Beales, Ronald Roepman, Patrícia Dias, Han G. Brunner, Jan-Maarten Cobben, Christine M Hall, Taila Hartley, Polona Le Quesne Stabej, Roberto Mendoza‐Londono, E. Graham Davies, Sérgio B. Sousa, Davor Lessel, Heleen H. Arts, Taco W. Kuijpers

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:

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