E-LIB Suche - Ergebnisse für: Au, P. Y. Billie

1

CAMTA1‐related disorder: Phenotypic and molecular character..:

Al‐Kateb, Hussam ; Au, P. Y. Billie ; Berland, Siren...
Clinical Genetics. , 2023

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

2

Cannabidiol counters the effects of a dominant-negative pat..:

Zhan, Xiaoqin ; Drummond-Main, Chris ; Greening, Dylan...
iScience. 25 (2022) 10 - p. 105092 , 2022

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

3

De novo KCNA6 variants with attenuated KV1.6 channel deacti..:

Salpietro, Vincenzo ; Galassi Deforie, Valentina ; Efthymiou, Stephanie...
Epilepsia. 64 (2022) 2 - p. 443-455 , 2022

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

4

An HNRNPK-specific DNA methylation signature makes sense of..:

Choufani, S. (Sanaa) ; McNiven, V. (Vanda) ; Cytrynbaum, C. (Cheryl)...
info:eu-repo/semantics/altIdentifier/pissn/0002-9297. , 2022

Link: http://urn.fi/urn:nbn:fi..

5

Familial neonatal seizures caused by the Kv7.3 selectivity ..:

Maghera, Jasmine ; Li, Jingru ; Lamothe, Shawn M....
Epilepsia Open. 5 (2020) 4 - p. 562-573 , 2020

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

6

Author Correction: CHD3 helicase domain mutations cause a n..:

Blok, Lot Snijders ; Rousseau, Justine ; Twist, Joanna...
Nature Communications. 10 (2019) 1 - p. , 2019

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

7

Author Correction: CHD3 helicase domain mutations cause a n..:

Snijders Blok, Lot ; Rousseau, Justine ; Twist, Joanna...
Nature Communications. 10 (2019) 1 - p. , 2019

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

8

Phenotypic spectrum of Au–Kline syndrome: a report of six n..:

Care for Rare Canada Consortium ; Au, P. Y. Billie ; Goedhart, Caitlin...
European Journal of Human Genetics. 26 (2018) 9 - p. 1272-1281 , 2018

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

9

CHD3 helicase domain mutations cause a neurodevelopmental s..:

Snijders Blok, Lot ; Rousseau, Justine ; Twist, Joanna...
Nature Communications. 9 (2018) 1 - p. , 2018

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

10

TAF1 Variants Are Associated with Dysmorphic Features, Inte..:

O'Rawe, Jason A. ; Wu, Yiyang ; Dörfel, Max J....
The American Journal of Human Genetics. 97 (2015) 6 - p. 922-932 , 2015

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

11

De novo exon 1 missense mutations of SKI and Shprintzen‐Gol..:

Au, P.Y. Billie ; Racher, Hilary E. ; Graham Jr., John M....
American Journal of Medical Genetics Part A. 164 (2013) 3 - p. 676-684 , 2013

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

12

Refinement of the critical region of 1q41q42 microdeletion ..:

Au, P.Y. Billie ; Argiropoulos, Bob ; Parboosingh, Jillian S..
American Journal of Medical Genetics Part A. 164 (2013) 2 - p. 441-448 , 2013

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

13

Essential role for caspase 8 in T-cell homeostasis and T-ce..:

Salmena, Leonardo ; Lemmers, Benedicte ; Hakem, Anne...
Genes & Development. 17 (2003) 7 - p. 883-895 , 2003

Link: https://doi.org/10.1101/..

14

α‐Actinin‐2 couples to cardiac Kv1.5 channels, regulating c..:

Maruoka, Neil D ; Steele, David F ; Au, Billie P.-Y...
FEBS Letters. 473 (2000) 2 - p. 188-194 , 2000

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

15

An HNRNPK-specific DNA methylation signature makes sense of..:

Choufani, Sanaa ; McNiven, Vanda ; Cytrynbaum, Cheryl...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9606382/. , 2022

Link: http://www.ncbi.nlm.nih...