E-LIB Suche - Ergebnisse für: Mefford, Heather C

1

Leveraging multiple approaches for the detection of pathoge..:

Nyaga, Denis M. ; Hildebrand, Michael S. ; de Valles‐Ibáñez, Guillem...
Epilepsia Open. 9 (2024) 2 - p. 758-764 , 2024

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

2

Familial aggregation of seizure outcomes in four familial e..:

Ellis, Colin A. ; Tu, Danni ; Oliver, Karen L....
Epilepsia. 65 (2024) 7 - p. 2030-2040 , 2024

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

3

WWOX developmental and epileptic encephalopathy: Understand..:

Oliver, Karen L. ; Trivisano, Marina ; Mandelstam, Simone A....
Epilepsia. 64 (2023) 5 - p. 1351-1367 , 2023

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

4

Contributors:

, In: Febrile Seizures,

Almanza Fuerte, Edith ; Baram, Tallie Z. ; Bender, Roland... - p. xiii-xvi , 2023

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

5

The evolving genetic landscape of febrile seizures and GEFS..:

, In: Febrile Seizures,

Almanza Fuerte, Edith ; Mefford, Heather C. - p. 31-42 , 2023

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

6

STRling: a k-mer counting approach that detects short tande..:

Dashnow, Harriet ; Pedersen, Brent S. ; Hiatt, Laurel...
Genome Biology. 23 (2022) 1 - p. , 2022

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

7

SCN1A Variants as the Underlying Cause of Genetic Epilepsy ..:

Cornejo-Sanchez, Diana M. ; Acharya, Anushree ; Bharadwaj, Thashi...
Genes. 13 (2022) 5 - p. 754 , 2022

Link: https://doi.org/10.3390/..

8

Common risk variants for epilepsy are enriched in families ..:

Oliver, Karen L. ; Ellis, Colin A. ; Scheffer, Ingrid E....
eBioMedicine. 81 (2022) - p. 104079 , 2022

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

9

Editorial overview: Congenital cardiovascular disease:

Hanchard, Neil A. ; Mefford, Heather C
Current Opinion in Genetics & Development. 77 (2022) - p. 102006 , 2022

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

10

KCNQ2 R144 variants cause neurodevelopmental disability wit..:

Miceli, Francesco ; Millevert, Charissa ; Soldovieri, Maria Virginia...
eBioMedicine. 81 (2022) - p. 104130 , 2022

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

11

The ClinGen Brain Malformation Variant Curation Expert Pane..:

Lai, Abbe ; Soucy, Aubrie ; El Achkar, Christelle Moufawad...
Genetics in Medicine. 24 (2022) 11 - p. 2240-2248 , 2022

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

12

A recurrent, de novo pathogenic variant in ARPC4 disrupts a..:

Laboy Cintron, Dianne ; Muir, Alison M. ; Scott, Abbey...
Human Genetics and Genomics Advances. 3 (2022) 1 - p. 100072 , 2022

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

13

Mutations of the DNA repair gene PNKP in a patient with mic..:

Jiang, Bingcheng ; Murray, Cameron ; Cole, Bonnie L....
Scientific Reports. 12 (2022) 1 - p. , 2022

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

14

The phenotypic spectrum of X‐linked, infantile onset ALG13‐..:

Datta, Alexandre N. ; Bahi‐Buisson, Nadia ; Bienvenu, Thierry...
Epilepsia. 62 (2021) 2 - p. 325-334 , 2021

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

15

Genetic convergence of developmental and epileptic encephal..:

Carvill, Gemma L ; Jansen, Sandra ; Lacroix, Amy...
Developmental Medicine & Child Neurology. 63 (2021) 12 - p. 1441-1447 , 2021

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