Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome
about
From gene discovery to new biological mechanisms: heparanases and congenital urinary bladder diseaseRetinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical DiagnosisLeveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.Molecular findings from 537 individuals with inherited retinal disease.Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service.
P2860
Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome
description
article publié dans la revue scientifique The Lancet
@fr
im Mai 2015 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published in The Lancet
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в травні 2015
@uk
ശാസ്ത്രപ്രബന്ധം
@ml
name
Pinpointing clinical diagnosis ...... case of Senior-Loken syndrome
@en
Pinpointing clinical diagnosis ...... case of Senior-Loken syndrome
@nl
type
label
Pinpointing clinical diagnosis ...... case of Senior-Loken syndrome
@en
Pinpointing clinical diagnosis ...... case of Senior-Loken syndrome
@nl
prefLabel
Pinpointing clinical diagnosis ...... case of Senior-Loken syndrome
@en
Pinpointing clinical diagnosis ...... case of Senior-Loken syndrome
@nl
P2093
P50
P1433
P1476
Pinpointing clinical diagnosis ...... case of Senior-Loken syndrome
@en
P2093
Georgina Hall
I Christopher Lloyd
James O'Sullivan
Kate A Hillman
Panagiotis I Sergouniotis
Sanjeev Bhaskar
Simon C Ramsden
P356
10.1016/S0140-6736(15)60496-2
P407
P577
2015-05-01T00:00:00Z