E-LIB Suche - Ergebnisse für: Ewans, Lisa

1

International Undiagnosed Diseases Programs (UDPs): compone..:

Curic, Ela ; Ewans, Lisa ; Pysar, Ryan...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

2

Standardized practices for RNA diagnostics using clinically..:

Bournazos, Adam M. ; Riley, Lisa G. ; Bommireddipalli, Shobhana...
Genetics in Medicine. 24 (2022) 1 - p. 130-145 , 2022

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

3

Recommendations for next generation sequencing data reanaly..:

Dai, Pei ; Honda, Andrew ; Ewans, Lisa...
Genetics in Medicine. 24 (2022) 8 - p. 1618-1629 , 2022

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

4

Whole exome and genome sequencing in mendelian disorders: a..:

Ewans, Lisa J. ; Minoche, Andre E. ; Schofield, Deborah...
European Journal of Human Genetics. 30 (2022) 10 - p. 1121-1131 , 2022

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

5

Different types of disease‐causing noncoding variants revea..:

Field, Michael J. ; Kumar, Raman ; Hackett, Anna...
Human Mutation. 42 (2021) 7 - p. 835-847 , 2021

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

6

A deep intronic SMARCB1 variant associated with schwannomat..:

Smith, Miriam J. ; Bowers, Naomi L. ; Banks, Catherine...
Clinical Genetics. 97 (2019) 2 - p. 376-377 , 2019

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

7

RecurrentTTNmetatranscript‐only c.39974–11T>G splice varian..:

Bryen, Samantha J. ; Ewans, Lisa J. ; Pinner, Jason...
Human Mutation. 41 (2019) 2 - p. 403-411 , 2019

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

8

Improving Genomic Diagnoses Through Accurate, Specific Phen..:

Ewans, Lisa J.
Pathology. 51 (2019) - p. S36 , 2019

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

9

Missense variants inTAF1and developmental phenotypes: Chall..:

Cheng, Hanyin ; Capponi, Simona ; Wakeling, Emma...
Human Mutation. 41 (2019) 2 - p. 449-464 , 2019

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

10

Silver Russel syndrome in an aboriginal patient from Austra..:

Poulton, Cathryn ; Azmanov, Dimitar ; Atkinson, Vanessa...
American Journal of Medical Genetics Part A. 176 (2018) 12 - p. 2561-2563 , 2018

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

11

Whole-exome sequencing reanalysis at 12 months boosts diagn..:

Ewans, Lisa J. ; Schofield, Deborah ; Shrestha, Rupendra...
Genetics in Medicine. 20 (2018) 12 - p. 1564-1574 , 2018

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

12

Gonadal mosaicism of a novel IQSEC2 variant causing female ..:

Ewans, Lisa J ; Field, Michael ; Zhu, Ying...
European Journal of Human Genetics. 25 (2017) 6 - p. 763-767 , 2017

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

13

Disorders of sex development: insights from targeted gene s..:

Eggers, Stefanie ; Sadedin, Simon ; van den Bergen, Jocelyn A....
Genome Biology. 17 (2016) 1 - p. , 2016

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

14

Clinical and molecular characterization of the 20q11.2 micr..:

Jedraszak, Guillaume ; Demeer, Bénédicte ; Mathieu‐Dramard, Michèle...
American Journal of Medical Genetics Part A. 167 (2015) 3 - p. 504-511 , 2015

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

15

Losartan therapy for cardiac disease in paediatric Marfan s..:

Ewans, Lisa J ; Roberts, Phillip ; Adès, Lesley
Journal of Paediatrics and Child Health. 51 (2015) 9 - p. 927-931 , 2015

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