Результати пошуку - Naushin Waseem
- Показ 1 - 20 результатів із 23
- На наступну сторінку
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1
Isolation and analysis of the fission yeast gene encoding polymerase delta accessory protein PCNA. за авторством Naushin Waseem, Karim Labib, Paul Nurse, David P. Lane
Опубліковано 1992Artigo -
2
Haemophilia A mutations in the UK: results of screening one‐third of the population за авторством P. M. Green, Richard D. Bagnall, Naushin Waseem, F. Giannelli
Опубліковано 2008Artigo -
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Prognostic value of proliferating cell nuclear antigen in gastric carcinoma. за авторством Sunjay Jain, M. I. Filipe, Peter A. Hall, Naushin Waseem, David P. Lane, David A. Levison
Опубліковано 1991Artigo -
5
Intracellular localization of the hepatitis B virus HBx protein за авторством Frank Henkler, Jonathan Hoare, Naushin Waseem, Robert Goldin, Michael J. McGarvey, Rajen Koshy, Ian A. King
Опубліковано 2001Artigo -
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Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans за авторством Vanita Berry, Cheryl Y. Gregory‐Evans, Warren Emmett, Naushin Waseem, Jacob Raby, Quincy Prescott, Anthony T. Moore, Shomi S. Bhattacharya
Опубліковано 2013Artigo -
8
<i>RP1L1</i>Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy за авторством 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
Опубліковано 2012Artigo -
9
A Homozygous Mutation in the<i><scp>TUB</scp></i>Gene Associated with Retinal Dystrophy and Obesity за авторством 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
Опубліковано 2013Artigo -
10
Molecular and Clinical Findings in Patients With Knobloch Syndrome за авторством 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
Опубліковано 2016Artigo -
11
A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa за авторством 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
Опубліковано 2010Artigo -
12
A clinical and molecular characterisation of CRB1-associated maculopathy за авторством 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
Опубліковано 2018Artigo -
13
Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa за авторством 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
Опубліковано 2013Artigo -
14
Mucous Membrane Pemphigoid with Ocular Involvement за авторством 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
Опубліковано 2017Artigo -
15
Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in <i>rd11</i> mice за авторством 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
Опубліковано 2010Artigo -
16
Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy за авторством 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
Опубліковано 2007Artigo -
17
NMNAT1 mutations cause Leber congenital amaurosis за авторством 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
Опубліковано 2012Artigo -
18
Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa за авторством 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
Опубліковано 2009Artigo -
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Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement за авторством 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
Опубліковано 2015Artigo -
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A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies за авторством 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
Опубліковано 2009Artigo
Інструменти для пошуку:
Пов'язані теми
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