نتائج البحث - Gavin Arno

تنقيح النتائج
  1. 1
    The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye

    The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye حسب Dulce Lima Cunha, Gavin Arno, Marta Cortón, Mariya Moosajee

    منشور في 2019
    احصل على النص الكامل احصل على النص الكامل
    Revisão
    أضف إلى المفضلة
    محفوظ في:
  2. 2
    A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome

    A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome حسب Malena Daich Varela, Fabiana Louise Motta, Andrew R. Webster, Gavin Arno

    منشور في 2021
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  3. 3
    Practical guide to genetic screening for inherited eye diseases

    Practical guide to genetic screening for inherited eye diseases حسب Cécile Méjécase, Samantha Malka, Zeyu Guan, Amy Slater, Gavin Arno, Mariya Moosajee

    منشور في 2020
    احصل على النص الكامل احصل على النص الكامل
    Revisão
    أضف إلى المفضلة
    محفوظ في:
  4. 4
    Enhanced S-Cone Syndrome

    Enhanced S-Cone Syndrome حسب Emanuel R. de Carvalho, Anthony G. Robson, Gavin Arno, Camiel J. F. Boon, Andrew Webster, Michel Michaelides

    منشور في 2020
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  5. 5
    Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients

    Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients حسب Juliana Maria Ferraz Sallum, Fabiana Louise Motta, Gavin Arno, Fernanda Belga Ottoni Porto, Rosane Guazi Resende, Rubens Belfort

    منشور في 2020
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  6. 6
    Heat-Shock Protein 60-Reactive CD4 <sup>+</sup> CD28 <sup>null</sup> T Cells in Patients With Acute Coronary Syndromes

    Heat-Shock Protein 60-Reactive CD4 <sup>+</sup> CD28 <sup>null</sup> T Cells in Patients With Acute Coronary Syndromes حسب Behnam Zal, Juan Carlos Kaski, Gavin Arno, Julius P. Akiyu, Qingbo Xu, Della Cole, Michael Whelan, Nick Russell, J. Alejandro Madrigal, I. Anthony Dodi, C. Baboonian

    منشور في 2004
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  7. 7
    The revised ghent nosology; reclassifying isolated ectopia lentis

    The revised ghent nosology; reclassifying isolated ectopia lentis حسب Aman Chandra, DK Patel, J.A. Aragon‐Martin, Amélie Pinard, Gwenaëlle Collod‐Béroud, P. Comeglio, Cathérine Boileau, Laurence Faivre, David G. Charteris, Anne H. Child, Gavin Arno

    منشور في 2014
    احصل على النص الكامل
    Revisão
    أضف إلى المفضلة
    محفوظ في:
  8. 8
    Single-base substitutions in the<i>CHM</i>promoter as a cause of choroideremia

    Single-base substitutions in the<i>CHM</i>promoter as a cause of choroideremia حسب Alina Radziwon, Gavin Arno, Dianna K. Wheaton, Ellen M. McDonagh, Emma L. Baple, Kaylie Webb-Jones, David G. Birch, Andrew R. Webster, Ian M. MacDonald

    منشور في 2017
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  9. 9
    GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies

    GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies حسب Zaina Bouzia, Michalis Georgiou, Sarah Hull, Anthony G. Robson, Kaoru Fujinami, Tryfon Rotsos, Nikolas Pontikos, Gavin Arno, Andrew R. Webster, Alison J. Hardcastle, Alessia Fiorentino, Michel Michaelides

    منشور في 2019
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  10. 10
    The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies

    The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies حسب Samantha R. De Silva, Gavin Arno, Anthony G. Robson, Ana Fakin, Nikolas Pontikos, Moin Mohamed, Alan C. Bird, Anthony T. Moore, Michel Michaelides, Andrew R. Webster, Omar A. Mahroo

    منشور في 2020
    احصل على النص الكامل
    Revisão
    أضف إلى المفضلة
    محفوظ في:
  11. 11
    An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

    An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data حسب Valentina Cipriani, Nikolas Pontikos, Gavin Arno, Panagiotis I. Sergouniotis, Eva Lenassi, Penpitcha Thawong, Daniel Daniš, Michel Michaelides, Andrew R. Webster, Anthony T. Moore, Peter N. Robinson, Julius O.B. Jacobsen, Damian Smedley

    منشور في 2020
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  12. 12
    Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

    Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases حسب Jamie M. Ellingford, Bradley Horn, Christopher Campbell, Gavin Arno, Stephanie Barton, Catriona Tate, Sanjeev S. Bhaskar, Panagiotis I. Sergouniotis, Rachel L. Taylor, Keren Carss, Lucy F. Raymond, Michel Michaelides, Simon Ramsden, Andrew R. Webster, Graeme Black

    منشور في 2017
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  13. 13
    Molecular and Clinical Findings in Patients With Knobloch Syndrome

    Molecular and Clinical Findings in Patients With Knobloch Syndrome حسب Sarah Hull, Gavin Arno, Cristy A. Ku, Zhongqi Ge, Naushin Waseem, Aman Chandra, Andrew R. Webster, Anthony G. Robson, Michel Michaelides, Richard G. Weleber, Indran Davagnanam, Rui Chen, Graham E. Holder, Mark E. Pennesi, Anthony T. Moore

    منشور في 2016
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  14. 14
    Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

    Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy حسب Panagiotis I. Sergouniotis, Christina Chakarova, Cian Murphy, Mirjana M Becker, Eva Lenassi, Gavin Arno, Monkol Lek, Daniel G. MacArthur, Shomi S. Bhattacharya, Anthony T. Moore, Graham E. Holder, Anthony G. Robson, Uwe Wolfrum, Andrew R. Webster, Vincent Plagnol

    منشور في 2014
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  15. 15
    Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy

    Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy حسب Renae Elaine Bertrand, Jun Wang, Kaitlyn Xiong, Chinthana Thangavel, Xinye Qian, Rola Ba‐Abbad, Qingnan Liang, Renata Toscano Simões, S. Sampaio, Keren Carss, F. Lucy Raymond, Anthony G. Robson, Andrew R. Webster, Gavin Arno, Fernanda Belga Ottoni Porto, Rui Chen

    منشور في 2020
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  16. 16
    Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

    Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy حسب Sophie Scheidecker, Christelle Etard, Laurence Haren, Corinne Stoetzel, Sarah Hull, Gavin Arno, Vincent Plagnol, Séverine Drunat, Sandrine Passemard, Annick Toutain, Cathy Obringer, M. Koob, Véronique Geoffroy, Vincent Marion, Uwe Strähle, Pia Østergaard, Alain Verloès, Andreas Merdes, Anthony T. Moore, Hélène Dollfus

    منشور في 2015
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  17. 17
    Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene <i>IFT140</i>

    Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene <i>IFT140</i> حسب Sarah Hull, Nicholas Owen, Farrah Islam, Dhani Tracey‐White, Vincent Plagnol, Graham E. Holder, Michel Michaelides, Keren Carss, F. Lucy Raymond, Jean‐Michel Rozet, Simon Ramsden, Graeme Black, Isabelle Perrault, Ajoy Sarkar, Mariya Moosajee, Andrew R. Webster, Gavin Arno, Anthony T. Moore

    منشور في 2016
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  18. 18
    Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

    Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom حسب Nikolas Pontikos, Gavin Arno, Neringa Jurkutė, Elena Schiff, Rola Ba‐Abbad, Samantha Malka, Ainoa Gimenez, Michalis Georgiou, Genevieve Wright, Monica Armengol, Hannah Knight, Menachem Katz, Mariya Moosajee, Patrick Yu‐Wai‐Man, Anthony T. Moore, Michel Michaelides, Andrew R. Webster, Omar A. Mahroo

    منشور في 2020
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  19. 19
    Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort

    Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort حسب Siying Lin, Sandra Vermeirsch, Nikolas Pontikos, María Pilar Martín-Gutiérrez, Malena Daich Varela, Samantha Malka, Elena Schiff, Hannah Knight, Genevieve Wright, Neringa Jurkutė, Mark Simcoe, Patrick Yu‐Wai‐Man, Mariya Moosajee, Michel Michaelides, Omar A. Mahroo, Andrew R. Webster, Gavin Arno

    منشور في 2024
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  20. 20
    A clinical and molecular characterisation of CRB1-associated maculopathy

    A clinical and molecular characterisation of CRB1-associated maculopathy حسب Kamron Khan, Anthony G. Robson, Omar A. Mahroo, Gavin Arno, Chris F. Inglehearn, Monica Armengol, Naushin Waseem, Graham E. Holder, Keren Carss, Lucy F. Raymond, Andrew R. Webster, Anthony T. Moore, Martin McKibbin, Maria M. van Genderen, James A. Poulter, Michel Michaelides

    منشور في 2018
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:

أدوات البحث: