E-LIB Suche - Ergebnisse für: Wedderburn, Sarah

1

Expanding the phenotypic spectrum of Chromosome 16p13.11 mi..:

Hamad, Asma ; Sherlaw-Sturrock, Charlotte A. ; Glover, Kate...
European Journal of Medical Genetics. 66 (2023) 4 - p. 104714 , 2023

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

2

Identification of LAMA1 mutations ends diagnostic odyssey a..:

Powell, Laura ; Olinger, Eric ; Wedderburn, Sarah...
Brain Communications. 3 (2021) 3 - p. , 2021

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

3

Andersen–Tawil syndrome: deep phenotyping reveals significa..:

Vivekanandam, Vinojini ; Männikkö, Roope ; Skorupinska, Iwona...
Brain. 145 (2021) 6 - p. 2108-2120 , 2021

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

4

Should All Individuals Be Screened for Genetic Predispositi..:

Wedderburn, Sarah ; McVeigh, Terri P. ; Tischkowitz, Marc
Genetics Research. 2021 (2021) - p. 1-6 , 2021

Link: https://doi.org/10.1155/..

5

Update: variable implementation of the 2018 UKCGG/UKGTN gui..:

Wedderburn, Sarah ; Archer, Stephanie ; Tischkowitz, Marc.
Journal of Medical Genetics. 58 (2021) 8 - p. 579-580 , 2021

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

6

The new genomic medicine service and implications for patie..:

Snape, Katie ; Wedderburn, Sarah ; Barwell, Julian
Clinical Medicine. 19 (2019) 4 - p. 273-277 , 2019

Link: https://doi.org/10.7861/..

7

Towards establishing consistency in triage in a tertiary sp..:

McVeigh, Terri Patricia ; Donnelly, Deirdre ; Al Shehhi, Maryam...
European Journal of Human Genetics. 27 (2019) 4 - p. 547-555 , 2019

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

8

Hereditary Neuropathy with Liability to Pressure Palsy Pres..:

Wedderburn, Sarah ; Pateria, Puraskar ; Panegyres, Peter K.
Case Reports in Neurology. 6 (2014) 3 - p. 281-286 , 2014

Link: https://doi.org/10.1159/..

9

Expanding the phenotypic spectrum of Chromosome 16p13.11 mi..:

Hamad, Asma ; Sherlaw-Sturrock, Charlotte A ; Glover, Kate...
Hamad , A , Sherlaw-Sturrock , C A , Glover , K , Salmon , R , Low , K , Nair , R , Sansbury , F H , Rawlins , L E , Carmichael , J , Horton , R , Wedderburn , S , Edgerley , K , Irving , R , Callaghan , M , Mercer , C , McGowan , R , Robert , L , Titheradge , H & Naik , S 2023 , ' Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication : A multicentric analysis of 206 patients ' , European Journal of Medical Genetics , vol. 66 , no. 4 , 104714 . https://doi.org/10.1016/j.ejmg.2023.104714. , 2023

Link: https://hdl.handle.net/1..

10

Update: variable implementation of the 2018 UKCGG/UKGTN gui..:

Wedderburn, Sarah ; Archer, Stephanie ; Tischkowitz, Marc..
https://www.repository.cam.ac.uk/handle/1810/317536. , 2021

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

11

Update: variable implementation of the 2018 UKCGG/UKGTN gui..:

Wedderburn, Sarah ; Archer, Stephanie ; Tischkowitz, Marc.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8327314/. , 2021

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

12

Towards establishing consistency in triage in a tertiary sp..:

McVeigh, Terri Patricia ; Donnelly, Deirdre ; Al Shehhi, Maryam...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460635/. , 2019

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

13

Hereditary Neuropathy with Liability to Pressure Palsy Pres..:

Wedderburn, Sarah ; Pateria, Puraskar ; Panegyres, Peter K
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2014

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

14

Should All Individuals Be Screened for Genetic Predispositi..:

Sarah Wedderburn ; Terri P. McVeigh
http://dx.doi.org/10.1155/2021/6611963. , 2021

Link: https://doi.org/10.1155/..

15

Hereditary Neuropathy with Liability to Pressure Palsy Pres..:

Sarah Wedderburn ; Puraskar Pateria ; Peter K. Panegyres
http://www.karger.com/Article/FullText/369921. , 2014

Link: https://doi.org/10.1159/..