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Ali, Manir
121
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Online (121)
Mediatypes
Articles (Online) (48)
OpenAccess-fulltext (73)
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1
Targeted nanopore sequencing enables complete characterisat..:
McClinton, Benjamin
;
Crinnion, Laura A.
;
McKibbin, Martin
...
Molecular Genetics & Genomic Medicine. 11 (2023) 6 - p. , 2023
Link:
https://doi.org/10.1002/..
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2
Haplotyping Using Long-Range PCR and Nanopore Sequencing to..:
McClinton, Benjamin
;
Watson, Christopher M.
;
Crinnion, Laura A.
...
Laboratory Investigation. 103 (2023) 8 - p. 100160 , 2023
Link:
https://doi.org/10.1016/..
?
3
Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Fol..:
Yahya, Samar
;
Watson, Christopher M.
;
Carr, Ian
...
Molecular Diagnosis & Therapy. 27 (2023) 4 - p. 525-535 , 2023
Link:
https://doi.org/10.1007/..
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4
Late-Onset Autosomal Dominant Macular Degeneration Caused b..:
Yahya, Samar
;
Smith, Claire E.L.
;
Poulter, James A.
...
Ophthalmology. 130 (2023) 1 - p. 68-76 , 2023
Link:
https://doi.org/10.1016/..
?
5
Effective smMIPs-Based Sequencing of Maculopathy-Associated..:
Mc Clinton, Benjamin
;
Corradi, Zelia
;
McKibbin, Martin
...
Genes. 14 (2023) 1 - p. 191 , 2023
Link:
https://doi.org/10.3390/..
?
6
Cost-effective sequence analysis of 113 genes in 1,192 prob..:
Panneman, Daan M.
;
Hitti-Malin, Rebekkah J.
;
Holtes, Lara K.
...
Frontiers in Cell and Developmental Biology. 11 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
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7
PDZD8 Disruption Causes Cognitive Impairment in Humans, Mic..:
Al-Amri, Ahmed H.
;
Armstrong, Paul
;
Amici, Mascia
...
Biological Psychiatry. 92 (2022) 4 - p. 323-334 , 2022
Link:
https://doi.org/10.1016/..
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8
Cover, Volume 42, Issue 2:
Poulter, James A.
;
Gravett, Molly S. C.
;
Taylor, Rachel L.
...
Human Mutation. 42 (2021) 2 - p. , 2021
Link:
https://doi.org/10.1002/..
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9
A multi-ethnic genome-wide association study implicates col..:
Hardcastle, Alison J.
;
Liskova, Petra
;
Bykhovskaya, Yelena
...
Communications Biology. 4 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
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10
New variants and in silico analyses in GRK1 associated Oguc..:
Poulter, James A.
;
Gravett, Molly S. C.
;
Taylor, Rachel L.
...
Human Mutation. 42 (2020) 2 - p. 164-176 , 2020
Link:
https://doi.org/10.1002/..
?
11
A Recessively Inherited Risk Locus on Chromosome 13q22-31 C..:
Mahmood, Tariq
;
El-Asrag, Mohammed E
;
Poulter, James A
...
Schizophrenia Bulletin. 47 (2020) 3 - p. 796-802 , 2020
Link:
https://doi.org/10.1093/..
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12
Loss-of-Function Mutations in the CFH Gene Affecting Altern..:
Taylor, Rachel L.
;
Poulter, James A.
;
Downes, Susan M.
...
Ophthalmology. 126 (2019) 10 - p. 1410-1421 , 2019
Link:
https://doi.org/10.1016/..
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13
Biallelic sequence and structural variants in RAX2 are a no..:
Van de Sompele, Stijn
;
Smith, Claire
;
Karali, Marianthi
...
Genetics in Medicine. 21 (2019) 6 - p. 1319-1329 , 2019
Link:
https://doi.org/10.1038/..
?
14
LHFPL5 mutation: A rare cause of non-syndromic autosomal re..:
Al-Amri, Ahmed H.
;
Al Saegh, Abeer
;
Al-Mamari, Watfa
...
European Journal of Medical Genetics. 62 (2019) 12 - p. 103592 , 2019
Link:
https://doi.org/10.1016/..
?
15
Matrix metalloproteinases in keratoconus – Too much of a go..:
di Martino, Erica
;
Ali, Manir
;
Inglehearn, Chris F.
Experimental Eye Research. 182 (2019) - p. 137-143 , 2019
Link:
https://doi.org/10.1016/..
1-15