Ich stimme zu, dass diese Seite Cookies verwende. Weitere Informationen finden Sie unter unseren Datenschutzerklärungen .
X
Lucy Raymond, F
2981  Ergebnisse:
Personensuche X
?
1

Ceramide synthase TLCD3B is a novel gene associated with hu..:

Bertrand, Renae Elaine ; Wang, Jun ; Xiong, Kaitlyn H....
Genetics in Medicine.  23 (2021)  3 - p. 488-497 , 2021
Link: https://doi.org/10.1038/..
 
?
2

Re-annotation of 191 developmental and epileptic encephalop..:

Steward, Charles A. ; Roovers, Jolien ; Suner, Marie-Marthe...
npj Genomic Medicine.  4 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
?
3

Long-range evolutionary constraints reveal cis-regulatory i..:

Naville, Magali ; Ishibashi, Minaka ; Ferg, Marco...
Nature Communications.  6 (2015)  1 - p. , 2015
Link: https://doi.org/10.1038/..
 
?
4

Molecular prenatal diagnosis: the impact of modern technolo..:

Lucy Raymond, F. ; Whittaker, Joanne ; Jenkins, Lucy..
Prenatal Diagnosis.  30 (2010)  7 - p. 674-681 , 2010
Link: https://doi.org/10.1002/..
 
?
5

Mutations in UPF3B, a member of the nonsense-mediated mRNA ..:

Tarpey, Patrick S ; Lucy Raymond, F ; Nguyen, Lam S...
Nature Genetics.  39 (2007)  9 - p. 1127-1133 , 2007
Link: https://doi.org/10.1038/..
 
?
6

Biallelic Mutations of TBC1D24 in Exercise‐Induced Paroxysm..:

Steel, Dora ; Heim, Jennifer ; Kruer, Michael C....
Movement Disorders.  35 (2020)  2 - p. 372-373 , 2020
Link: https://doi.org/10.1002/..
 
?
7

A clinical and molecular characterisation of CRB1-associate..:

UK Inherited Retinal Disease Consortium ; Khan, Kamron N. ; Robson, Anthony...
European Journal of Human Genetics.  26 (2018)  5 - p. 687-694 , 2018
Link: https://doi.org/10.1038/..
 
?
8

Managing clinically significant findings in research: the U..:

UK 10K ; Kaye, Jane ; Hurles, Matthew...
European Journal of Human Genetics.  22 (2014)  9 - p. 1100-1104 , 2014
Link: https://doi.org/10.1038/..
 
?
9

Personal journeys to and in human genetics and dysmorpholog:

Schwartz, Charles E. ; Aylsworth, Arthur S. ; Allanson, Judith...
American Journal of Medical Genetics Part A.  194 (2024)  6 - p. , 2024
Link: https://doi.org/10.1002/..
 
?
10

Population screening requires robust evidence—genomics is n..:

Turnbull, Clare ; Firth, Helen V ; Wilkie, Andrew O M...
The Lancet.  403 (2024)  10426 - p. 583-586 , 2024
Link: https://doi.org/10.1016/..
 
?
11

Mapping the Constrained Coding Regions in the Human Genome ..:

Hasenahuer, Marcia A. ; Sanchis-Juan, Alba ; Laskowski, Roman A....
Journal of Molecular Biology.  435 (2023)  2 - p. 167892 , 2023
Link: https://doi.org/10.1016/..
 
?
12

Genome sequencing and comprehensive rare-variant analysis o..:

Sanchis-Juan, Alba ; Megy, Karyn ; Stephens, Jonathan...
The American Journal of Human Genetics.  110 (2023)  8 - p. 1343-1355 , 2023
Link: https://doi.org/10.1016/..
 
?
13

Mental health impact of autism on families of children with..:

Wolstencroft, Jeanne ; Srinivasan, Ramya ; Hall, Jeremy...
JCPP Advances.  3 (2023)  1 - p. , 2023
Link: https://doi.org/10.1002/..
 
?
14

Sleep disturbance as a transdiagnostic marker of psychiatri..:

Chawner, Samuel J. R. A. ; Evans, Alexandra ; Wolstencroft, Jeanne...
Translational Psychiatry.  13 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
?
15

Identifying the neurodevelopmental and psychiatric signatur..:

Donnelly, Nicholas ; Cunningham, Adam ; Salas, Sergio Marco...
Molecular Autism.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
1-15