E-LIB Suche - Ergebnisse für: Bruty, Jonathan

1

Identification of an Activating PDGFRA Deletion in a Novel ..:

Watkins, James A. ; Hatcher, Helen ; Malhotra, Shalini...
Head and Neck Pathology. 17 (2023) 2 - p. 576-580 , 2023

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

2

Germline mismatch repair (MMR) gene analyses from English N..:

Loong, Lucy ; Huntley, Catherine ; McRonald, Fiona...
Journal of Medical Genetics. 60 (2022) 7 - p. 669-678 , 2022

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

3

Lynch/Turcot Syndrome and Sporadic Mismatch Repair Deficien..:

Briggs, Mayen ; Bruty, Jonathan ; O'Donovan, Dominic...
Neuro-Oncology. 24 (2022) Supplement_4 - p. iv16-iv16 , 2022

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

4

Clear cell variant of atypical fibroxanthoma and pleomorphi..:

Coelho‐Lima, Jose ; Bruty, Jonathan ; Watkins, James...
Journal of Cutaneous Pathology. 49 (2022) 12 - p. 1031-1034 , 2022

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

5

New GJA8 variants and phenotypes highlight its critical rol..:

DDD Study ; Ceroni, Fabiola ; Aguilera-Garcia, Domingo...
Human Genetics. 138 (2018) 8-9 - p. 1027-1042 , 2018

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

6

Adult female with symptomatic AVPR2-related nephrogenic syn..:

Hague, Jennifer ; Casey, Ruth ; Bruty, Jonathan...
Endocrinology, Diabetes & Metabolism Case Reports. 2018 (2018) - p. , 2018

Link: https://doi.org/10.1530/..

7

MaConDa: a publicly accessible mass spectrometry contaminan..:

Weber, Ralf J. M. ; Li, Eva ; Bruty, Jonathan..
Bioinformatics. 28 (2012) 21 - p. 2856-2857 , 2012

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

8

Adult female with symptomatic AVPR2-related nephrogenic syn..:

Hague, Jennifer ; Casey, Ruth ; Bruty, Jonathan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5813712/. , 2018

Link: http://www.ncbi.nlm.nih...

9

New GJA8 variants and phenotypes highlight its critical rol..:

Ceroni, Fabiola ; Aguilera-Garcia, Domingo ; Chassaing, Nicolas...
https://radar.brookes.ac.uk/radar/items/17d0e6ce-224a-4053-8350-9a8adf4a4870/1/. , 2018

Link: https://radar.brookes.ac..

10

Adult female with symptomatic AVPR2-related nephrogenic syn..:

Hague, Jennifer ; Casey, Ruth ; Bruty, Jonathan...
https://www.repository.cam.ac.uk/handle/1810/276119. , 2018

Link: https://www.repository.c..

11

Adult female with symptomatic AVPR2-related nephrogenic syn..:

Jennifer Hague ; Ruth Casey ; Jonathan Bruty...
https://www.edmcasereports.com/articles/endocrinology-diabetes-and-metabolism-case-reports/10.1530/EDM-17-0139. , 2018

Link: https://doi.org/10.1530/..