E-LIB Suche - Ergebnisse für: Chung, Seo-kyung

1

Evaluation for Retinal Therapy for RPE65 Variation Assessed..:

Nash, Benjamin M. ; Loi, To Ha ; Fernando, Milan...
Stem Cells International. 2021 (2021) - p. 1-12 , 2021

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

2

A homozygous ATAD1 mutation impairs postsynaptic AMPA recep..:

Piard, Juliette ; Umanah, George K Essien ; Harms, Frederike L...
Brain. 141 (2018) 3 - p. 651-661 , 2018

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

3

De novo mutations in GRIN1 cause extensive bilateral polymi..:

Fry, Andrew E ; Fawcett, Katherine A ; Zelnik, Nathanel...
Brain. 141 (2018) 3 - p. 698-712 , 2018

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

4

Expanding the phenotype of TRAK1 mutations: hyperekplexia a..:

Sagie, Shira ; Lerman-Sagie, Tally ; Maljevic, Snezana...
Brain. 141 (2018) 7 - p. e55-e55 , 2018

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

5

Reply: ATAD1 encephalopathy and stiff baby syndrome: a reco..:

Piard, Juliette ; Essien Umanah, George K ; Harms, Frederike L...
Brain. 141 (2018) 6 - p. e50-e50 , 2018

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

6

Hyperekplexia: Report on phenotype and genotype of 16 Jorda..:

Masri, Amira ; Chung, Seo-Kyung ; Rees, Mark I.
Brain and Development. 39 (2017) 4 - p. 306-311 , 2017

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

7

Pathogenic copy number variants and SCN1A mutations in pati..:

Fry, Andrew E. ; Rees, Elliott ; Thompson, Rose...
BMC Medical Genetics. 17 (2016) 1 - p. , 2016

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

8

Genome-wide Polygenic Burden of Rare Deleterious Variants i..:

Leu, Costin ; Balestrini, Simona ; Maher, Bridget...
EBioMedicine. 2 (2015) 9 - p. 1063-1070 , 2015

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

9

Recognizable cerebellar dysplasia associated with mutations..:

Oegema, Renske ; Cushion, Thomas D. ; Phelps, Ian G....
Human Molecular Genetics. 24 (2015) 18 - p. 5313-5325 , 2015

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

10

A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ an..:

Johnston, Ann J. ; Kang, Jing-Qiong ; Shen, Wangzhen...
Neurobiology of Disease. 64 (2014) - p. 131-141 , 2014

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

11

Translation of genetic findings to clinical practice in juv..:

Thomas, Rhys H. ; Chung, Seo-Kyung ; Hamandi, Khalid..
Epilepsy & Behavior. 26 (2013) 3 - p. 241-246 , 2013

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

12

Overlapping cortical malformations and mutations in TUBB2B ..:

Cushion, Thomas D. ; Dobyns, William B. ; Mullins, Jonathan G. L....
Brain. 136 (2013) 2 - p. 536-548 , 2013

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

13

Novel missense mutations in the glycine receptor β subunit ..:

James, Victoria M. ; Bode, Anna ; Chung, Seo-Kyung...
Neurobiology of Disease. 52 (2013) - p. 137-149 , 2013

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

14

A Novel Dominant Hyperekplexia Mutation Y705C Alters Traffi..:

Giménez, Cecilio ; Pérez-Siles, Gonzalo ; Martínez-Villarreal, Jaime...
Journal of Biological Chemistry. 287 (2012) 34 - p. 28986-29002 , 2012

Link: https://doi.org/10.1074/..

15

GLRB is the third major gene of effect in hyperekplexia:

Chung, Seo-Kyung ; Bode, Anna ; Cushion, Thomas D....
Human Molecular Genetics. 22 (2012) 5 - p. 927-940 , 2012

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