E-LIB Suche - Ergebnisse für: Hodgson, Bree

1

Two novel intragenic variants in the FMR1 gene in patients ..:

Carroll, Renee ; Shaw, Marie ; Arvio, Maria...
European Journal of Medical Genetics. 63 (2020) 10 - p. 104010 , 2020

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

2

Combined PGS and PGD for thalassemia:

Brockman, Matthew ; Hodgson, Bree ; Warren, Kimberly.
Reproductive BioMedicine Online. 36 (2018) - p. e8-e9 , 2018

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

3

Combined PGD and PGS by NGS on the same biopsy using a sing..:

Jasper, Melinda ; Brockman, Matthew ; Hodgson, Bree.
Reproductive BioMedicine Online. 36 (2018) - p. e16-e17 , 2018

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

4

P100 A novel sequence enrichment protocol allowing HLA-typi..:

Jasper, Melinda ; Warren, Kimberley ; Brockman, Matthew...
Human Immunology. 78 (2017) - p. 127 , 2017

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

5

Mutations in the mammalian target of rapamycin pathway regu..:

Ricos, Michael G. ; Hodgson, Bree L. ; Pippucci, Tommaso...
Annals of Neurology. 79 (2015) 1 - p. 120-131 , 2015

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

6

GABRA1andSTXBP1: Novel genetic causes of Dravet syndrome:

Carvill, Gemma L. ; Weckhuysen, Sarah ; McMahon, Jacinta M....
Neurology. 82 (2014) 14 - p. 1245-1253 , 2014

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

7

Mutations in mammalian target of rapamycin regulator DEPDC5..:

Scheffer, Ingrid E. ; Heron, Sarah E. ; Regan, Brigid M....
Annals of Neurology. 75 (2014) 5 - p. 782-787 , 2014

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

8

Mutations in DEPDC5 cause familial focal epilepsy with vari..:

Dibbens, Leanne M ; de Vries, Boukje ; Donatello, Simona...
Nature Genetics. 45 (2013) 5 - p. 546-551 , 2013

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

9

Autosomal dominant vasovagal syncope: Clinical features and..:

Klein, Karl Martin ; Bromhead, Catherine J. ; Smith, Katherine R....
Neurology. 80 (2013) 16 - p. 1485-1493 , 2013

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

10

Role of the sodium channel SCN9A in genetic epilepsy with f..:

Mulley, John C. ; Hodgson, Bree ; McMahon, Jacinta M....
Epilepsia. 54 (2013) 9 - p. , 2013

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

11

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy an..:

Heron, Sarah E. ; Grinton, Bronwyn E. ; Kivity, Sara...
The American Journal of Human Genetics. 90 (2012) 1 - p. 152-160 , 2012

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

12

Rare protein sequence variation in SV2A gene does not affec..:

Dibbens, Leanne M. ; Hodgson, Bree L. ; Helbig, Katherine L....
Epilepsy Research. 101 (2012) 3 - p. 277-279 , 2012

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

13

The Role of Seizure-RelatedSEZ6as a Susceptibility Gene in ..:

Mulley, John C. ; Iona, Xenia ; Hodgson, Bree...
Neurology Research International. 2011 (2011) - p. 1-4 , 2011

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

14

Augmented currents of an HCN2 variant in patients with febr..:

Dibbens, Leanne M. ; Reid, Christopher A. ; Hodgson, Bree...
Annals of Neurology. 67 (2010) 4 - p. 542-546 , 2010

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

15

Epilepsy and mental retardation limited to females: an unde..:

Scheffer, Ingrid E. ; Turner, Samantha J. ; Dibbens, Leanne M....
Brain. 131 (2008) 4 - p. 918-927 , 2008

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