Suchergebnisse - "Happ, Hannah C"

PubPharm (14)

1

Determining the pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene,SZT2

enthalten in: bioRxiv.org | 2023

von Calhoun, J. | Aziz, M. | Happ, H. | +26

2

Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of anSCN1Apoison exon in epilepsy

enthalten in: bioRxiv.org | 2023

von Happ, H. | Schneider, P. | Hong, J. | +11

3

Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsy

enthalten in: bioRxiv : the preprint server for biology | 2023

von Happ, H. | Schneider, P. | Hong, J. | +11

4

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

enthalten in: Neurology | 2023

von Happ, H. | Sadleir, L. | Zemel, M. | +52

5

mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion

enthalten in: Brain : a journal of neurology | 2022

von Calhoun, J. | Aziz, M. | Happ, H. | +26

ErratumIn: Brain. 2023 Aug 1;146(8):e61. - PMID 36996274

6

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

enthalten in: bioRxiv.org | 2022

von Happ, H. | Sadleir, L. | Zemel, M. | +51

7

Ultrasound-mediated blood-brain barrier opening increases cell-free DNA in a time-dependent manner

enthalten in: Neuro-oncology advances | 2021

von Zhang, D. | Gould, A. | Happ, H. | +7

8

A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies

enthalten in: Epilepsy currents | 2020

von Happ, H. | Carvill, G.

9

Increased Hematopoietic Extracellular RNAs and Vesicles in the Lung during Allergic Airway Responses

enthalten in: Cell reports | 2019

von Pua, H. | Happ, H. | Gray, C. | +4

10

MicroRNA regulation of type 2 innate lymphoid cell homeostasis and function in allergic inflammation

enthalten in: The Journal of experimental medicine | 2017

von Singh, P. | Pua, H. | Happ, H. | +5