E-LIB Suche - Ergebnisse für: Haworth, Andrea

1

eP360: Exome analysis of prenatal and postnatal cases refer..:

Haworth, Andrea ; Homfray, Tessa ; Drury, Suzanne...
Genetics in Medicine. 24 (2022) 3 - p. S226 , 2022

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

2

Translating genetic and functional data into clinical pract..:

Suetterlin, Karen ; Matthews, Emma ; Sud, Richa...
Brain. 145 (2021) 2 - p. 607-620 , 2021

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

3

Early prenatal presentation of the cartilage-hair hypoplasi..:

Hall, Christine M. ; Liu, Becky ; Haworth, Andrea...
European Journal of Medical Genetics. 64 (2021) 3 - p. 104162 , 2021

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

4

Refinement of the clinical and mutational spectrum ofUBE2Ad..:

Cordeddu, Viviana ; Macke, Erica L. ; Radio, Francesca Clementina...
Clinical Genetics. 98 (2020) 2 - p. 172-178 , 2020

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

5

Case report: targeted whole exome sequencing enables the fi..:

Pemberton, Lara ; Barker, Robert ; Cockell, Anna...
BMC Medical Genetics. 21 (2020) 1 - p. , 2020

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

6

In vivoimpact of presynaptic calcium channel dysfunction on..:

Tomlinson, Susan E. ; Tan, S. Veronica ; Burke, David...
Brain. 139 (2016) 2 - p. 380-391 , 2016

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

7

C9orf72expansions are the most common genetic cause of Hunt..:

Hensman Moss, Davina J. ; Poulter, Mark ; Beck, Jon...
Neurology. 82 (2014) 4 - p. 292-299 , 2014

Link: https://doi.org/10.1212/..

8

Prevalence study of genetically defined skeletal muscle cha..:

Horga, Alejandro ; Raja Rayan, Dipa L. ; Matthews, Emma...
Neurology. 80 (2013) 16 - p. 1472-1475 , 2013

Link: https://doi.org/10.1212/..

9

The inherited ataxias: Genetic heterogeneity, mutation data..:

Hersheson, Joshua ; Haworth, Andrea ; Houlden, Henry
Human Mutation. 33 (2012) 9 - p. 1324-1332 , 2012

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

10

New immunohistochemical method for improved myotonia and ch..:

Raheem, Olayinka ; Penttilä, Sini ; Suominen, Tiina...
Neurology. 79 (2012) 22 - p. 2194-2200 , 2012

Link: https://doi.org/10.1212/..

11

Call for participation in the neurogenetics consortium with..:

Haworth, Andrea ; Bertram, Lars ; Carrera, Paola...
neurogenetics. 12 (2011) 3 - p. 169-173 , 2011

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

12

Refined exercise testing can aid dna‐based diagnosis in mus..:

Tan, S. Veronica ; Matthews, Emma ; Barber, Melissa...
Annals of Neurology. 69 (2011) 2 - p. 328-340 , 2011

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

13

An intragenic duplication in guanosine triphosphate cyclohy..:

Ling, Helen ; Polke, James M. ; Sweeney, Mary G....
Movement Disorders. 26 (2011) 5 - p. 905-909 , 2011

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

14

Detection of five novel mutations of the cystic fibrosis tr..:

Malone, Geraldine ; Haworth, Andrea ; Schwarz, Martin J...
Human Mutation. 11 (1998) 2 - p. 152-157 , 1998

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

15

Detection of five novel mutations of the cystic fibrosis tr..:

Malone, Geraldine ; Haworth, Andrea ; Schwarz, Martin J...
Human Mutation. 11 (1998) 2 - p. 152-157 , 1998

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