E-LIB Suche - Ergebnisse für: Watson, Christopher M

1

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis..:

Smith, Claire E L ; Laugel-Haushalter, Virginie ; Hany, Ummey...
Journal of Medical Genetics. 61 (2024) 7 - p. 689-698 , 2024

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

2

The Common PKD1 p.(Ile3167Phe) Variant Is Hypomorphic and A..:

Durkie, Miranda ; Watson, Christopher M. ; Winship, Peter...
Human Mutation. 2023 (2023) - p. 1-8 , 2023

Link: https://doi.org/10.1155/..

3

2581. Desirability of Outcome Ranking and Response Adjusted..:

Guidry, Christopher A ; Chollet-Hinton, Lynn ; Baker, Jordan...
Open Forum Infectious Diseases. 10 (2023) Supplement_2 - p. , 2023

Link: https://doi.org/10.1093/..

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/..

5

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/..

6

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/..

7

Pathological variants in TOP3A cause distinct disorders of ..:

Erdinc, Direnis ; Rodríguez‐Luis, Alejandro ; Fassad, Mahmoud R...
EMBO Molecular Medicine. 15 (2023) 5 - p. , 2023

Link: https://doi.org/10.15252..

8

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/..

9

HeterozygousCOL17A1variants are a frequent cause of ameloge..:

Hany, Ummey ; Watson, Christopher M ; Liu, Lu...
Journal of Medical Genetics. 61 (2023) 4 - p. 347-355 , 2023

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

10

Cryoablation versus rib plating: Is the real problem pain c..:

Butterfield, Jaron H. ; Reparaz, Laura B. ; Watson, Christopher M.
Trauma Case Reports. 46 (2023) - p. 100858 , 2023

Link: https://doi.org/10.1016/..

11

Inherited CD19 Deficiency Does Not Impair Plasma Cell Forma..:

Walker, Kieran ; Mistry, Anoop ; Watson, Christopher M....
Journal of Clinical Immunology. 43 (2023) 7 - p. 1543-1556 , 2023

Link: https://doi.org/10.1007/..

12

Identification of a novel MAGT1 mutation supports a diagnos..:

Watson, Christopher M. ; Nadat, Fatima ; Ahmed, Sammiya...
Genes & Immunity. 23 (2022) 2 - p. 66-72 , 2022

Link: https://doi.org/10.1038/..

13

Long‐read nanopore DNA sequencing can resolve complex intra..:

Watson, Christopher M. ; Holliday, Deborah L. ; Crinnion, Laura A..
Prenatal Diagnosis. 42 (2022) 2 - p. 226-232 , 2022

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

14

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/..

15

Assessing the utility of long-read nanopore sequencing for ..:

Watson, Christopher M. ; Crinnion, Laura A. ; Lindsay, Helen...
Laboratory Investigation. 101 (2021) 4 - p. 442-449 , 2021

Link: https://doi.org/10.1038/..