E-LIB Suche - Ergebnisse für: Caswell, Richard C.

1

Chromosome 20p11.2 deletions cause congenital hyperinsulini..:

Laver, Thomas W. ; Wakeling, Matthew N. ; Caswell, Richard C....
European Journal of Human Genetics. 32 (2024) 7 - p. 813-818 , 2024

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

2

Clinical findings and structural analysis involving a patie..:

Caswell, Richard C. ; Baptista, Julia ; Cairns, Lauren M...
European Journal of Medical Genetics. 66 (2023) 6 - p. 104768 , 2023

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

3

Primate-specific ZNF808 is essential for pancreatic develop..:

De Franco, Elisa ; Owens, Nick D. L. ; Montaser, Hossam...
Nature Genetics. 55 (2023) 12 - p. 2075-2081 , 2023

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

4

Assessing the clinical utility of protein structural analys..:

Caswell, Richard C. ; Gunning, Adam C. ; Owens, Martina M...
Genome Medicine. 14 (2022) 1 - p. , 2022

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

5

Missense substitutions at a conserved 14-3-3 binding site i..:

Wakeling, Emma ; McEntagart, Meriel ; Bruccoleri, Michael...
Human Genetics and Genomics Advances. 2 (2021) 1 - p. 100015 , 2021

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

6

Variants in GNAI1 cause a syndrome associated with variable..:

Muir, Alison M. ; Gardner, Jennifer F. ; van Jaarsveld, Richard H....
Genetics in Medicine. 23 (2021) 5 - p. 881-887 , 2021

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

7

Noninvasive Fetal Genotyping by Droplet Digital PCR to Iden..:

Caswell, Richard C ; Snowsill, Tristan ; Houghton, Jayne A L...
Clinical Chemistry. 66 (2020) 7 - p. 958-965 , 2020

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

8

A hypomorphic allele of SLC35D1 results in Schneckenbecken-..:

Rautengarten, Carsten ; Quarrell, Oliver W ; Stals, Karen...
Human Molecular Genetics. 28 (2019) 21 - p. 3543-3551 , 2019

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

9

Using Structural Analysis In Silico to Assess the Impact of..:

Caswell, Richard C ; Owens, Martina M ; Gunning, Adam C..
Journal of the Endocrine Society. 3 (2019) 12 - p. 2258-2275 , 2019

Link: https://doi.org/10.1210/..

10

Pitfalls of haplotype phasing from amplicon-based long-read..:

Laver, Thomas W. ; Caswell, Richard C. ; Moore, Karen A....
Scientific Reports. 6 (2016) 1 - p. , 2016

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

11

Control and heterologous expression in Escherichia coli of ..:

Gacesa, Peter ; Caswell, Richard C.
Hydrobiologia. 204-205 (1990) 1 - p. 661-665 , 1990

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

12

Detection of alginate lyases by isoelectric focusing and ac..:

Caswell, Richard C. ; Gacesa, Peter ; Weightman, Andrew J.
International Journal of Biological Macromolecules. 8 (1986) 6 - p. 337-341 , 1986

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

13

Primate-specific ZNF808 is essential for pancreatic develop..:

Pancreatic Agenesis Gene Discovery ; De Franco, Elisa ; Owens, Nick D. L...
10.1038/s41588-023-01565-x. , 2024

Link: http://hdl.handle.net/10..

14

Missense substitutions at a conserved 14-3-3 binding site i..:

Wakeling, Emma ; McEntagart, Meriel ; Bruccoleri, Michael...
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/33537682/. , 2021

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

15

Heterozygous mutations affecting the protein kinase domain ..:

Hamilton, Mark J ; Caswell, Richard C ; Canham, Natalie...
https://research.manchester.ac.uk/en/publications/c047dda5-4066-45d6-a5e3-09b7df383eb5. , 2018

Link: https://research.manches..