Results
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New missense variants in RELT causing hypomineralised amelogenesis imperfecta. [electronic resource] by
- Nikolopoulos, Georgios
- Smith, Claire E L
- Brookes, Steven J
- El-Asrag, Mohammed E
- Brown, Catriona J
- Patel, Anesha
- Murillo, Gina
- O'Connell, Mary J
- Inglehearn, Chris F
- Mighell, Alan J
Producer: 20210607
In:
Clinical genetics vol. 97
Availability: No items available.
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LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss. [electronic resource] by
- Al-Amri, Ahmed H
- Al Saegh, Abeer
- Al-Mamari, Watfa
- El-Asrag, Mohammed E
- Al-Kindi, Mohammed N
- Al Khabouri, Mazin
- Al Wardy, Nadia
- Al Lamki, Khalsa
- Gabr, Ahlam
- Idris, Ahmed
- Inglehearn, Chris F
- Clapcote, Steven J
- Ali, Manir
Producer: 20200312
In:
European journal of medical genetics vol. 62
Availability: No items available.
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Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. [electronic resource] by
- El-Asrag, Mohammed E
- Sergouniotis, Panagiotis I
- McKibbin, Martin
- Plagnol, Vincent
- Sheridan, Eamonn
- Waseem, Naushin
- Abdelhamed, Zakia
- McKeefry, Declan
- Van Schil, Kristof
- Poulter, James A
- Johnson, Colin A
- Carr, Ian M
- Leroy, Bart P
- De Baere, Elfride
- Inglehearn, Chris F
- Webster, Andrew R
- Toomes, Carmel
- Ali, Manir
Producer: 20150817
In:
American journal of human genetics vol. 96
Availability: No items available.
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Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene. [electronic resource] by
- Sergouniotis, Panagiotis I
- McKibbin, Martin
- Robson, Anthony G
- Bolz, Hanno J
- De Baere, Elfride
- Müller, Philipp L
- Heller, Raoul
- El-Asrag, Mohammed E
- Van Schil, Kristof
- Plagnol, Vincent
- Toomes, Carmel
- Ali, Manir
- Holder, Graham E
- Charbel Issa, Peter
- Leroy, Bart P
- Inglehearn, Chris F
- Webster, Andrew R
Producer: 20160510
In:
Investigative ophthalmology & visual science vol. 56
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Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes. [electronic resource] by
- Astuti, Galuh D N
- van den Born, L Ingeborgh
- Khan, M Imran
- Hamel, Christian P
- Bocquet, Béatrice
- Manes, Gaël
- Quinodoz, Mathieu
- Ali, Manir
- Toomes, Carmel
- McKibbin, Martin
- El-Asrag, Mohammed E
- Haer-Wigman, Lonneke
- Inglehearn, Chris F
- Black, Graeme C M
- Hoyng, Carel B
- Cremers, Frans P M
- Roosing, Susanne
Publication details: Genes Jan 2018
In:
Genes vol. 9
Availability: No items available.
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Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. [electronic resource] by
- Ravesh, Zeinab
- El Asrag, Mohammed E
- Weisschuh, Nicole
- McKibbin, Martin
- Reuter, Peggy
- Watson, Christopher M
- Baumann, Britta
- Poulter, James A
- Sajid, Sundus
- Panagiotou, Evangelia S
- O'Sullivan, James
- Abdelhamed, Zakia
- Bonin, Michael
- Soltanifar, Mehdi
- Black, Graeme C M
- Amin-ud Din, Muhammad
- Toomes, Carmel
- Ansar, Muhammad
- Inglehearn, Chris F
- Wissinger, Bernd
- Ali, Manir
Producer: 20150911
In:
Molecular vision vol. 21
Availability: No items available.
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Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. [electronic resource] by
- Khan, Kamron N
- El-Asrag, Mohammed E
- Ku, Cristy A
- Holder, Graham E
- McKibbin, Martin
- Arno, Gavin
- Poulter, James A
- Carss, Keren
- Bommireddy, Tejaswi
- Bagheri, Saghar
- Bakall, Benjamin
- Scholl, Hendrik P
- Raymond, F Lucy
- Toomes, Carmel
- Inglehearn, Chris F
- Pennesi, Mark E
- Moore, Anthony T
- Michaelides, Michel
- Webster, Andrew R
- Ali, Manir
Producer: 20170719
In:
Investigative ophthalmology & visual science vol. 58
Availability: No items available.
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Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. [electronic resource] by
- Bedoni, Nicola
- Haer-Wigman, Lonneke
- Vaclavik, Veronika
- Tran, Viet H
- Farinelli, Pietro
- Balzano, Sara
- Royer-Bertrand, Beryl
- El-Asrag, Mohammed E
- Bonny, Olivier
- Ikonomidis, Christos
- Litzistorf, Yan
- Nikopoulos, Konstantinos
- Yioti, Georgia G
- Stefaniotou, Maria I
- McKibbin, Martin
- Booth, Adam P
- Ellingford, Jamie M
- Black, Graeme C
- Toomes, Carmel
- Inglehearn, Chris F
- Hoyng, Carel B
- Bax, Nathalie
- Klaver, Caroline C W
- Thiadens, Alberta A
- Murisier, Fabien
- Schorderet, Daniel F
- Ali, Manir
- Cremers, Frans P M
- Andréasson, Sten
- Munier, Francis L
- Rivolta, Carlo
Producer: 20180226
In:
Human molecular genetics vol. 25
Availability: No items available.
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