E-LIB Suche - Ergebnisse für: Mulley, John C.

1

Familial neonatal seizures in 36 families: Clinical and gen..:

Grinton, Bronwyn E. ; Heron, Sarah E. ; Pelekanos, James T....
Epilepsia. 56 (2015) 7 - p. 1071-1080 , 2015

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

2

Genetics of epilepsy: The testimony of twins in the molecul..:

Vadlamudi, Lata ; Milne, Roger L. ; Lawrence, Kate...
Neurology. 83 (2014) 12 - p. 1042-1048 , 2014

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

3

Cognitive deficit and autism spectrum disorders: prospectiv..:

Nicholl, Jillian ; Waters, Wendy ; Mulley, John C....
Pathology. 46 (2014) 1 - p. 41-45 , 2014

Link: https://doi.org/10.1097/..

4

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/..

5

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/..

6

Epilepsy with cognitive deficit and autism spectrum disorde..:

Nicholl, Jillian ; Waters, Wendy ; Suwalski, Shanna...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 162 (2012) 1 - p. 24-35 , 2012

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

7

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/..

8

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/..

9

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epil..:

Weckhuysen, Sarah ; Mandelstam, Simone ; Suls, Arvid...
Annals of Neurology. 71 (2012) 1 - p. 15-25 , 2012

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

10

Familial focal epilepsy with variable foci mapped to chromo..:

Klein, Karl Martin ; O'Brien, Terence J. ; Praveen, Kavita...
Epilepsia. 53 (2012) 8 - p. , 2012

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

11

Epilepsy and the new cytogenetics:

Mulley, John C. ; Mefford, Heather C.
Epilepsia. 52 (2011) 3 - p. 423-432 , 2011

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

12

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/..

13

Investigation of the 15q13.3 CNV as a genetic modifier for ..:

Mulley, John C. ; Scheffer, Ingrid E. ; Desai, Tarishi...
Epilepsia. 52 (2011) 10 - p. e139-e142 , 2011

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

14

"Blinders, phenotype, and fashionable genetic analysis": Se..:

Mulley, John C. ; Heron, Sarah E. ; Wallace, Robyn H...
Epilepsia. 52 (2011) 9 - p. 1757-1758 , 2011

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

15

Proposed genetic classification of the "benign" familial ne..:

Mulley, John C. ; Heron, Sarah E. ; Dibbens, Leanne M.
Epilepsia. 52 (2011) 3 - p. 649-650 , 2011

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