E-LIB Suche - Ergebnisse für: Toomes, Carmel

1

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

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

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/..

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

Unlocking the potential of the UK 100,000 Genomes Project—l..:

Best, Sunayna ; Inglehearn, Chris F. ; Watson, Christopher M....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190 (2022) 1 - p. 5-8 , 2022

Link: https://doi.org/10.1002/..

7

Bi-allelic mutation of CTNNB1 causes a severe form of syndr..:

Taylor, Rachel L. ; Soriano, Carla Sanjuro ; Williams, Simon...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

8

Molecular diagnoses in the congenital malformations caused ..:

Best, Sunayna ; Lord, Jenny ; Roche, Matthew...
Acta Ophthalmologica. 100 (2022) S267 - p. , 2022

Link: https://doi.org/10.1111/..

9

SLC38A8 mutation spectrum in foveal hypoplasia:

Derar, Mohammed ; Lord, Emma C. ; Poulter, James A....
Acta Ophthalmologica. 100 (2022) S267 - p. , 2022

Link: https://doi.org/10.1111/..

10

Uncovering the burden of hidden ciliopathies in the 100 000..:

Best, Sunayna ; Yu, Jing ; Lord, Jenny...
Journal of Medical Genetics. 59 (2022) 12 - p. 1151-1164 , 2022

Link: https://doi.org/10.1136/..

11

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/..

12

Molecular diagnoses in the congenital malformations caused ..:

Best, Sunayna ; Lord, Jenny ; Roche, Matthew...
Journal of Medical Genetics. 59 (2021) 8 - p. 737-747 , 2021

Link: https://doi.org/10.1136/..

13

The Role of Csmd1 during Mammary Gland Development:

Burgess, Samuel J. ; Gibbs, Hannah ; Toomes, Carmel..
Genes. 12 (2021) 2 - p. 162 , 2021

Link: https://doi.org/10.3390/..

14

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/..

15

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/..