E-LIB Suche - Ergebnisse für: Holder Jr, J. Lloyd

1

Clinical, genetic, and cognitive correlates of seizure occu..:

Levy, Tess ; Gluckman, Jacob ; Siper, Paige M....
Journal of Neurodevelopmental Disorders. 16 (2024) 1 - p. , 2024

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

2

Social behavioral impairments in SYNGAP1-related intellectu..:

Naveed, Hajer ; McCormack, Maria ; Holder Jr, J. Lloyd
Frontiers in Pediatrics. 11 (2023) - p. , 2023

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

3

Updated consensus guidelines on the management of Phelan–Mc..:

Srivastava, Siddharth ; Sahin, Mustafa ; Buxbaum, Joseph D....
American Journal of Medical Genetics Part A. 191 (2023) 8 - p. 2015-2044 , 2023

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

4

Health-Related Quality of Life in Pediatric Patients with S..:

Bolbocean, Corneliu ; Andújar, Fabiola N. ; McCormack, Maria..
Journal of Autism and Developmental Disorders. 52 (2021) 3 - p. 1334-1345 , 2021

Link: https://doi.org/10.1007/..

5

Sleep Abnormalities in the Synaptopathies—SYNGAP1-Related I..:

Smith-Hicks, Constance ; Wright, Damien ; Kenny, Aisling...
Brain Sciences. 11 (2021) 9 - p. 1229 , 2021

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

6

Unwind and Relax: DDX3X RNA Helicase as a Critical Mediator..:

Vuocolo, Blake ; Holder Jr., J. Lloyd
Neuron. 106 (2020) 3 - p. 357-358 , 2020

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

7

An autism-linked missense mutation in SHANK3 reveals the mo..:

Wang, Li ; Pang, Kaifang ; Han, Kihoon...
Molecular Psychiatry. 25 (2019) 10 - p. 2534-2555 , 2019

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

8

A kinome-wide RNAi screen identifies ERK2 as a druggable re..:

Wang, Li ; Adamski, Carolyn J. ; Bondar, Vitaliy V....
Molecular Psychiatry. 25 (2019) 10 - p. 2504-2516 , 2019

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

9

De novo and inherited TCF20 pathogenic variants are associa..:

The DDD study ; Vetrini, Francesco ; McKee, Shane...
Genome Medicine. 11 (2019) 1 - p. , 2019

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

10

Phenotypic characterization of individuals with SYNGAP1 pat..:

Jimenez-Gomez, Andres ; Niu, Sizhe ; Andujar-Perez, Fabiola...
Journal of Neurodevelopmental Disorders. 11 (2019) 1 - p. , 2019

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

11

Correction to: De novo and inherited TCF20 pathogenic varia..:

The DDD study ; Vetrini, Francesco ; McKee, Shane...
Genome Medicine. 11 (2019) 1 - p. , 2019

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

12

SYNGAP1 heterozygosity disrupts sensory processing by reduc..:

Michaelson, Sheldon D. ; Ozkan, Emin D. ; Aceti, Massimiliano...
Nature Neuroscience. 21 (2018) 12 - p. 1-13 , 2018

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

13

Two de novo novel mutations in one SHANK3 allele in a patie..:

Zhu, Wenmiao ; Li, Jianli ; Chen, Stella...
American Journal of Medical Genetics Part A. 176 (2018) 4 - p. 973-979 , 2018

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

14

Delineation of the genetic and clinical spectrum of Phelan-..:

De Rubeis, Silvia ; Siper, Paige M. ; Durkin, Allison...
Molecular Autism. 9 (2018) 1 - p. , 2018

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

15

The first international conference on SYNGAP1-related brain..:

Weldon, Monica ; Kilinc, Murat ; Lloyd Holder Jr, J..
Journal of Neurodevelopmental Disorders. 10 (2018) 1 - p. , 2018

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