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Ali, Manir
121  Ergebnisse:
Personensuche X
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1

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/..
 
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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/..
 
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3

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/..
 
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4

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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5

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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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/..
 
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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

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/..
 
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13

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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14

Mutation spectrum and clinical investigation of achromatops..:

Felden, Julia ; Baumann, Britta ; Ali, Manir...
Human Mutation.  , 2019
Link: https://doi.org/10.1002/..
 
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15

Correction: Biallelic sequence and structural variants in R..:

Van de Sompele, Stijn ; Smith, Claire ; Karali, Marianthi...
Genetics in Medicine.  21 (2019)  4 - p. 1028 , 2019
Link: https://doi.org/10.1038/..
 
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