E-LIB Suche - Ergebnisse für: Sands, Tristan T

1

Heterogeneity of comprehensive clinical phenotype and longi..:

Sudnawa, Khemika K. ; Li, Wenxing ; Calamia, Sean...
Genetics in Medicine. 26 (2024) 8 - p. 101169 , 2024

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

2

Epilepsy and Encephalopathy:

Sands, Tristan T. ; Gelinas, Jennifer N.
Pediatric Neurology. 150 (2024) - p. 24-31 , 2024

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

3

Population‐based study of rare epilepsy incidence in a US u..:

Barbour, Kristen ; Tian, Niu ; Yozawitz, Elissa G....
Epilepsia. , 2024

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

4

Clinical utility of exome sequencing in a pediatric epileps..:

Graifman, Jordana L. ; Lippa, Natalie C. ; Mulhern, Maureen S...
Epilepsia. 64 (2023) 4 - p. 986-997 , 2023

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

5

Creating rare epilepsy cohorts using keyword search in elec..:

Barbour, Kristen ; Tian, Niu ; Yozawitz, Elissa G....
Epilepsia. 64 (2023) 10 - p. 2738-2749 , 2023

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

6

Diagnostic sequencing to support genetically stratified med..:

Lippa, Natalie ; Bier, Louise ; Revah-Politi, Anya...
Genetics in Medicine. 24 (2022) 4 - p. 862-869 , 2022

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

7

The role of stereo-electroencephalography to localize the e..:

Kim, Woojoong ; Shen, Min Y. ; Provenzano, Frank A....
Epilepsy Research. 179 (2022) - p. 106828 , 2022

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

8

Somatic variants in diverse genes leads to a spectrum of fo..:

Lai, Dulcie ; Gade, Meethila ; Yang, Edward...
Brain. 145 (2022) 8 - p. 2704-2720 , 2022

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

9

Neonatal presentation of genetic epilepsies: Early differen..:

Cornet, Marie‐Coralie ; Morabito, Valeria ; Lederer, Damien...
Epilepsia. 62 (2021) 8 - p. 1907-1920 , 2021

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

10

A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in ..:

Miceli, Francesco ; Carotenuto, Lidia ; Barrese, Vincenzo...
Frontiers in Physiology. 11 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

11

Association of guideline publication and delays to treatmen..:

Sánchez Fernández, Iván ; Abend, Nicholas S. ; Amengual-Gual, Marta...
Neurology. 95 (2020) 9 - p. , 2020

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

12

Contributors:

, In: Neurology,

Bertini, Enrico ; Bingham, Adrienne ; Chau, Vann... - p. v-viii , 2019

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

13

Neonatal-Onset Epilepsies:

, In: Neurology,

Cilio, Maria Roberta ; Sands, Tristan T. - p. 131-140 , 2019

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

14

Autism and developmental disability caused by KCNQ3 gain‐of..:

Sands, Tristan T. ; Miceli, Francesco ; Lesca, Gaetan...
Annals of Neurology. 86 (2019) 2 - p. 181-192 , 2019

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

15

Refining the phenotype associated with GNB1 mutations: Clin..:

Hemati, Parisa ; Revah‐Politi, Anya ; Bassan, Haim...
American Journal of Medical Genetics Part A. 176 (2018) 11 - p. 2259-2275 , 2018

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