Hasil Pencarian - Gavin Arno

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  1. 1
    Practical guide to genetic screening for inherited eye diseases

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

    Diterbitkan 2020-09-01
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  2. 2
    Isolated rod dysfunction associated with a novel genotype of CNGB1

    Isolated rod dysfunction associated with a novel genotype of CNGB1 oleh Rola Ba-Abbad, Graham E. Holder, Anthony G. Robson, Magella M. Neveu, Naushin Waseem, Gavin Arno, Andrew R. Webster

    Diterbitkan 2019-06-01
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  3. 3
    Panel‐based genetic testing for inherited retinal disease screening 176 genes

    Panel‐based genetic testing for inherited retinal disease screening 176 genes oleh Leo H. N. Sheck, Simona D. Esposti, Omar A. Mahroo, Gavin Arno, Nikolas Pontikos, Genevieve Wright, Andrew R. Webster, Kamron N. Khan, Michel Michaelides

    Diterbitkan 2021-12-01
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  4. 4
    Phenogenon: Gene to phenotype associations for rare genetic diseases.

    Phenogenon: Gene to phenotype associations for rare genetic diseases. oleh Nikolas Pontikos, Cian Murphy, Ismail Moghul, Gavin Arno, Kaoru Fujinami, Yu Fujinami, Dayyanah Sumodhee, Susan Downes, Andrew Webster, Jing Yu, UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium

    Diterbitkan 2020-01-01
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  5. 5
    Investigating Splice Defects in <i>USH2A</i> Using Targeted Long-Read Sequencing

    Investigating Splice Defects in <i>USH2A</i> Using Targeted Long-Read Sequencing oleh Shwetha Chandrasekhar, Siying Lin, Neringa Jurkute, Kathryn Oprych, Leire Estramiana Elorrieta, Elena Schiff, Samantha Malka, Genevieve Wright, Michel Michaelides, Omar A. Mahroo, Andrew R. Webster, Gavin Arno

    Diterbitkan 2024-07-01
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  6. 6
    Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

    Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss oleh Giulia Ascari, Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Miriam Bauwens, Mattias Van Heetvelde, Mattias Van Heetvelde, Gavin Arno, Gavin Arno, Gavin Arno, Julie Jacob, David Creytens, David Creytens, Jo Van Dorpe, Jo Van Dorpe, Thalia Van Laethem, Thalia Van Laethem, Toon Rosseel, Toon Rosseel, Tim De Pooter, Tim De Pooter, Peter De Rijk, Peter De Rijk, Wouter De Coster, Wouter De Coster, Björn Menten, Björn Menten, Alfredo Dueñas Rey, Alfredo Dueñas Rey, Mojca Strazisar, Mojca Strazisar, Mette Bertelsen, Mette Bertelsen, Lisbeth Tranebjaerg, Lisbeth Tranebjaerg, Elfride De Baere, Elfride De Baere

    Diterbitkan 2021-04-01
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  7. 7
    Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus

    Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus oleh Valentina Cipriani, Raquel S. Silva, Gavin Arno, Nikolas Pontikos, Ambreen Kalhoro, Sandra Valeina, Inna Inashkina, Mareta Audere, Katrina Rutka, Bernard Puech, Michel Michaelides, Veronica van Heyningen, Baiba Lace, Andrew R. Webster, Anthony T. Moore

    Diterbitkan 2017-08-01
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  8. 8
    Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy

    Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy oleh Hariharan Raju, James S. Ware, Jonathan R. Skinner, Paula L. Hedley, Gavin Arno, Donald R. Love, Christian van der Werf, Jacob Tfelt-Hansen, Bo Gregers Winkel, Marta C. Cohen, Xinzhong Li, Shibu John, Sanjay Sharma, Steve Jeffery, Arthur A. M. Wilde, Michael Christiansen, Mary N. Sheppard, Elijah R. Behr

    Diterbitkan 2019-07-01
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  9. 9
    Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

    Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing oleh Alba Sanchis-Juan, Jonathan Stephens, Courtney E. French, Nicholas Gleadall, Karyn Mégy, Christopher Penkett, Olga Shamardina, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Luca Stefanucci, Gavin Arno, Andrew R. Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, Willem H. Ouwehand, F. Lucy Raymond, Keren J. Carss

    Diterbitkan 2018-12-01
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  10. 10
    Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

    Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease oleh Mubeen Khan, Gavin Arno, Ana Fakin, David A. Parfitt, Patty P.A. Dhooge, Silvia Albert, Nathalie M. Bax, Lonneke Duijkers, Michael Niblock, Kwan L. Hau, Edward Bloch, Elena R. Schiff, Davide Piccolo, Michael C. Hogden, Carel B. Hoyng, Andrew R. Webster, Frans P.M. Cremers, Michael E. Cheetham, Alejandro Garanto, Rob W.J. Collin

    Diterbitkan 2020-09-01
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  11. 11
    Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)

    Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene) oleh Sagnik Sen, Michel Michaelides, Andrew R Webster, Konstantinos Balaskas, Kaoru Fujinami, Manuel Gomes, Nikolas Pontikos, Susan M Downes, Malena Daich Varela, Omar A Mahroo, Thales Antonio Cabral de Guimaraes, Stephen Archer, Gavin Arno, Mital Shah, Savita Madhusudhan, Quang Nguyen, William Woof, Nathaniel Kabiri, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Jennifer Furman

    Diterbitkan 2023-03-01
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  12. 12
    Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

    Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype oleh Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H. Z. Li, Robert A. Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B. Haack, Katarina Stingl, Genomics England Research Consortium, Carel B. Hoyng, Omar A. Mahroo, Iain Hargreaves, F. Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R. Webster, Gavin Arno

    Diterbitkan 2022-10-01
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  13. 13
    Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

    Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders oleh Charlie Rowlands, Huw B. Thomas, Jenny Lord, Htoo A. Wai, Gavin Arno, Glenda Beaman, Panagiotis Sergouniotis, Beatriz Gomes-Silva, Christopher Campbell, Nicole Gossan, Claire Hardcastle, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst, Simon Ramsden, Elizabeth Jones, Jill Clayton-Smith, Andrew R. Webster, Genomics England Research Consortium, Andrew G. L. Douglas, Raymond T. O’Keefe, William G. Newman, Diana Baralle, Graeme C. M. Black, Jamie M. Ellingford

    Diterbitkan 2021-10-01
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  14. 14
    Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

    Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD oleh Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba-Abbad, Emily M. Place, Erin Zampaglione, Naomi E. Wagner, Anne B. Fulton, Luisa Coutinho-Santos, Boris Rosin, Vincent Dunet, Ala’a AlTalbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Michaelides, Tamar Ben-Yosef, Eric A. Pierce, Carlo Rivolta, Andrew R. Webster, Gavin Arno, Dror Sharon, Rachel M. Huckfeldt, Kinga M. Bujakowska

    Diterbitkan 2021-06-01
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  15. 15
    Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

    Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease oleh Alfredo Dueñas Rey, Marta del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Genomics England Research Consortium, Carlo Rivolta, Raymond T O’Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters

    Diterbitkan 2024-01-01
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  16. 16
    Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina

    Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina oleh Patricio G. Schlottmann, José D. Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P. Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E. Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M. Martin, Gerardo Juan Ormaechea, M. Eugenia Inga, Aníbal A. Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J. Nuova, Ivana B. Canonero, Omar A. Mahroo, Michel Michaelides, Gavin Arno, Malena Daich Varela

    Diterbitkan 2023-05-01
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  17. 17
    The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

    The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision oleh Paul W. Chrystal, Nils J. Lambacher, Lance P. Doucette, James Bellingham, Elena R. Schiff, Nicole C. L. Noel, Chunmei Li, Sofia Tsiropoulou, Geoffrey A. Casey, Yi Zhai, Nathan J. Nadolski, Mohammed H. Majumder, Julia Tagoe, Fabiana D’Esposito, Maria Francesca Cordeiro, Susan Downes, Jill Clayton-Smith, Jamie Ellingford, Genomics England Research Consortium, Omar A. Mahroo, Jennifer C. Hocking, Michael E. Cheetham, Andrew R. Webster, Gert Jansen, Oliver E. Blacque, W. Ted Allison, Ping Yee Billie Au, Ian M. MacDonald, Gavin Arno, Michel R. Leroux

    Diterbitkan 2022-11-01
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  18. 18
    Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.

    Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. oleh Lin Li, Xiaodong Jiao, Ilaria D'Atri, Fumihito Ono, Ralph Nelson, Chi-Chao Chan, Naoki Nakaya, Zhiwei Ma, Yan Ma, Xiaoying Cai, Longhua Zhang, Siying Lin, Abdul Hameed, Barry A Chioza, Holly Hardy, Gavin Arno, Sarah Hull, Muhammad Imran Khan, James Fasham, Gaurav V Harlalka, Michel Michaelides, Anthony T Moore, Zeynep Hande Coban Akdemir, Shalini Jhangiani, James R Lupski, Frans P M Cremers, Raheel Qamar, Ahmed Salman, John Chilton, Jay Self, Radha Ayyagari, Firoz Kabir, Muhammad Asif Naeem, Muhammad Ali, Javed Akram, Paul A Sieving, Sheikh Riazuddin, Emma L Baple, S Amer Riazuddin, Andrew H Crosby, J Fielding Hejtmancik

    Diterbitkan 2018-08-01
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