Ngā hua rapu - Naushin Waseem
- E whakaatu ana i te 1 - 20 hua o te 23
- Haere ki te Whārangi Whai Ake
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Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans mā Vanita Berry, Cheryl Y. Gregory‐Evans, Warren Emmett, Naushin Waseem, Jacob Raby, Quincy Prescott, Anthony T. Moore, Shomi S. Bhattacharya
I whakaputaina 2013Artigo -
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<i>RP1L1</i>Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy mā Alice E. Davidson, Panagiotis I. Sergouniotis, Donna S. Mackay, Genevieve Wright, Naushin Waseem, Michel Michaelides, Graham E. Holder, Anthony G. Robson, Anthony T. Moore, Vincent Plagnol, Andrew R. Webster
I whakaputaina 2012Artigo -
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A Homozygous Mutation in the<i><scp>TUB</scp></i>Gene Associated with Retinal Dystrophy and Obesity mā Arundhati Dev Borman, Laura R. Pearce, Donna S. Mackay, Kerstin Nagel‐Wolfrum, Alice E. Davidson, Robert Henderson, Sumedha Garg, Naushin Waseem, Andrew R. Webster, Vincent Plagnol, Uwe Wolfrum, I. Sadaf Farooqi, Anthony T. Moore
I whakaputaina 2013Artigo -
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Molecular and Clinical Findings in Patients With Knobloch Syndrome mā 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
I whakaputaina 2016Artigo -
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A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa mā Sheikh Riazuddin, Muhammad Iqbal, Yue J. Wang, Tomohiro Masuda, Yuhng Chen, Sara J. Bowne, Lori S. Sullivan, Naushin Waseem, Shomi S. Bhattacharya, Stephen P. Daiger, Kang Zhang, Shaheen N. Khan, Sheikh Riazuddin, J. Fielding Hejtmancik, Paul A. Sieving, Donald J. Zack, Nicholas Katsanis
I whakaputaina 2010Artigo -
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A clinical and molecular characterisation of CRB1-associated maculopathy mā 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
I whakaputaina 2018Artigo -
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Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa mā Alice E. Davidson, Nele Schwarz, Lina Zelinger, Gabriele Stern-Schneider, Amelia Shoemark, Benjamin Spitzbarth, Menachem Gross, Uri Laxer, Jacob Sosna, Panagiotis I. Sergouniotis, Naushin Waseem, Robert Wilson, Richard Kahn, Vincent Plagnol, Uwe Wolfrum, Eyal Banin, Alison J. Hardcastle, Michael E. Cheetham, Dror Sharon, Andrew R. Webster
I whakaputaina 2013Artigo -
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Mucous Membrane Pemphigoid with Ocular Involvement mā Hon Shing Ong, Jane Setterfield, Darwin Minassian, John Dart, Debbie Booth, Elaina Reid, Nicole Carnt, Stefano Gugliemetti, Vijay Shanmuganathan, Martin Watson, Valerie Saw, Mark Wilkins, Vicky McCudden, Saj Ahmad, Virginia L. Calder, Naushin Waseem, Beverly Scott, Catey Bunce, William H. Gage, Mike Gleeson, Valerie J. Lund, Guri Sandhu
I whakaputaina 2017Artigo -
15
Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in <i>rd11</i> mice mā James S. Friedman, Bo Chang, Daniel S. Krauth, Irma López, Naushin Waseem, R.E. Hurd, Kecia L. Feathers, Kari Branham, Manessa Shaw, George E. Thomas, Matthew J. Brooks, Chunqiao Liu, Hirva Bakeri, Maria M Campos, C. Maubaret, Andrew R. Webster, Ignacio R. Rodríguez, Debra A. Thompson, Shomi S. Bhattacharya, Robert K. Koenekoop, John R. Heckenlively, Anand Swaroop
I whakaputaina 2010Artigo -
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Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy mā Christina Chakarova, Myrto Papaioannou, Hemant Khanna, Irma López, Naushin Waseem, Amna Shah, Torsten Theis, James S. Friedman, C. Maubaret, Kinga M. Bujakowska, Brotati Kaur Veraitch, Mai M. Abd El-Aziz, Quincy Prescott, Sunil K. Parapuram, Wendy A. Bickmore, Peter Munro, Andreas Gal, Christian Hamel, Valeria Marigo, Chris P. Ponting, Bernd Wissinger, Eberhart Zrenner, Karl Matter, Anand Swaroop, Robert K. Koenekoop, Shomi S. Bhattacharya
I whakaputaina 2007Artigo -
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NMNAT1 mutations cause Leber congenital amaurosis mā Marni J. Falk, Qi Zhang, Eiko Nakamaru‐Ogiso, Chitra Kannabiran, Zoë Fonseca-Kelly, Christina Chakarova, Isabelle Audo, Donna S. Mackay, Christina Zeitz, Arundhati Dev Borman, Magdalena Staniszewska, Rachna Shukla, Lakshmi Palavalli, Saddek Mohand‐Saïd, Naushin Waseem, Subhadra Jalali, Juan C. Perín, Emily Place, Julian Ostrovsky, Rui Xiao, Shomi S. Bhattacharya, Mark Consugar, Andrew R. Webster, José‐Alain Sahel, Anthony T. Moore, Eliot L. Berson, Qin Liu, Xiaowu Gai, Eric A. Pierce
I whakaputaina 2012Artigo -
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Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa mā James S. Friedman, Joseph W. Ray, Naushin Waseem, Kory R. Johnson, Matthew J. Brooks, Therése Hugosson, Debra K. Breuer, Kari Branham, Daniel S. Krauth, Sara J. Bowne, Lori S. Sullivan, Vesna Ponjavic, Lotta Gränse, Ritu Khanna, Edward H. Trager, Linn Gieser, Dianna K. Hughbanks-Wheaton, Radu Cojocaru, Noor M. Ghiasvand, Christina Chakarova, Magnus Abrahamson, Harald H.H. Göring, Andrew R. Webster, David G. Birch, Gonçalo R. Abecasis, Yang C. Fann, Shomi S. Bhattacharya, Stephen P. Daiger, John R. Heckenlively, Sten Andréasson, Anand Swaroop
I whakaputaina 2009Artigo -
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Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement mā Mohammed E. El‐Asrag, Panagiotis I. Sergouniotis, Martin McKibbin, Vincent Plagnol, Eamonn Sheridan, Naushin Waseem, Zakia Abdelhamed, Declan J. McKeefry, Kristof Van Schil, James A. Poulter, Colin A. Johnson, Ian Carr, Bart P. Leroy, Elfride De Baere, Chris F. Inglehearn, Andrew R. Webster, Carmel Toomes, Manir Ali, Graeme Black, Georgina Hall, Stuart Ingram, Rachel Gillespie, Simon Ramsden, Forbes D.C. Manson, Alison J. Hardcastle, Michel Michaelides, Michael E. Cheetham, Gavin Arno, Niclas Thomas, Shomi S. Bhattacharya, Tony Moore, Andrea H. Németh, Susan M. Downes, Stefano Lise, Emma Lord
I whakaputaina 2015Artigo -
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A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies mā Hemant Khanna, Erica E. Davis, Carlos Murga‐Zamalloa, Alejandro Estrada‐Cuzcano, Irma López, Anneke I. den Hollander, Marijke N. Zonneveld, Mohammad Othman, Naushin Waseem, Christina Chakarova, C. Maubaret, Anna Dı́az-Font, Ian M. MacDonald, Donna M. Muzny, David A. Wheeler, Margaret Morgan, Lora Lewis, Clare V. Logan, Perciliz L. Tan, M Beer, Chris F. Inglehearn, Richard A. Lewis, Samuel G. Jacobson, Carsten Bergmann, Philip L. Beales, Tania Attié‐Bitach, Colin A. Johnson, Edgar A. Otto, Shomi S. Bhattacharya, Friedhelm Hildebrandt, Richard A. Gibbs, Robert K. Koenekoop, Anand Swaroop, Nicholas Katsanis
I whakaputaina 2009Artigo
Ngā utauta rapu:
Ngā marau whai pānga
Biology
Genetics
Gene
Mutation
Medicine
Retinal degeneration
Retinitis pigmentosa
Exon
Exome sequencing
Missense mutation
Ophthalmology
Pathology
Allele
Biochemistry
Phenotype
Cell biology
Disease gene identification
Frameshift mutation
Immunology
Locus (genetics)
Proband
Retinal
Bardet–Biedl syndrome
Cell
Chemistry
Cilium
Compound heterozygosity
Dystrophy
Environmental health
Enzyme