E-LIB Suche - Ergebnisse für: Butler, Kameryn M

1

Prenatal diagnosis of PIGV-related hyperphosphatasia with i..:

Burns, William ; Louie, Raymond J. ; Butler, Kameryn M...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108211 , 2024

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

2

Variant-specific pathophysiological mechanisms of AFF3 diff..:

Bassani, Sissy ; Chrast, Jacqueline ; Ambrosini, Giovanna...
Genome Medicine. 16 (2024) 1 - p. , 2024

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

3

Pathogenic heterozygous TRPM7 variants and hypomagnesemia w..:

Bosman, Willem ; Butler, Kameryn M ; Chang, Caitlin A...
Clinical Kidney Journal. , 2024

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

4

DNA methylation episignature for Witteveen-Kolk syndrome du..:

Coenen-van der Spek, Jet ; Relator, Raissa ; Kerkhof, Jennifer...
Genetics in Medicine. 25 (2023) 1 - p. 63-75 , 2023

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

5

DNA methylation episignature in Gabriele-de Vries syndrome:

Cherik, Florian ; Reilly, Jack ; Kerkhof, Jennifer...
Genetics in Medicine. 24 (2022) 4 - p. 905-914 , 2022

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

6

A SOX3 duplication and lumbosacral spina bifida in three ge..:

Butler, Kameryn M. ; Fee, Timothy ; DuPont, Barbara R....
American Journal of Medical Genetics Part A. 188 (2022) 5 - p. 1572-1577 , 2022

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

7

Analysis of X‐inactivation status in a Rett syndrome natura..:

Fang, Xiaolan ; Butler, Kameryn M. ; Abidi, Fatima...
Molecular Genetics & Genomic Medicine. 10 (2022) 5 - p. , 2022

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

8

ATP6V0C variants impair V-ATPase function causing a neurode..:

Mattison, Kari A ; Tossing, Gilles ; Mulroe, Fred...
Brain. 146 (2022) 4 - p. 1357-1372 , 2022

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

9

Tenorio syndrome: Description of 14 novel cases and review ..:

Tenorio‐Castaño, Jair Antonio ; Arias, Pedro ; Fernández‐Jaén, Alberto...
Clinical Genetics. 100 (2021) 4 - p. 405-411 , 2021

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

10

Pathogenic in-Frame Variants in SCN8A: Expanding the Geneti..:

Wong, Jennifer C. ; Butler, Kameryn M. ; Shapiro, Lindsey...
Frontiers in Pharmacology. 12 (2021) - p. , 2021

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

11

10. New evidence for triplosensitivity of TBL1XR1:

Butler, Kameryn M. ; Hilton, Benjamin ; Clarkson, Katie..
Cancer Genetics. 252-253 (2021) - p. S4 , 2021

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

12

Mutations in the Scn8a DIIS4 voltage sensor reveal new dist..:

Inglis, George Andrew S. ; Wong, Jennifer C. ; Butler, Kameryn M....
Genes, Brain and Behavior. 19 (2019) 4 - p. , 2019

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

13

De novo variants in GABRA2 and GABRA5 alter receptor functi..:

Butler, Kameryn M ; Moody, Olivia A ; Schuler, Elisabeth...
Brain. 141 (2018) 8 - p. 2392-2405 , 2018

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

14

SLC6A1variants identified in epilepsy patients reduce γ‐ami..:

Mattison, Kari A. ; Butler, Kameryn M. ; Inglis, George Andrew S....
Epilepsia. 59 (2018) 9 - p. , 2018

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

15

Epileptic Encephalopathy and Cerebellar Atrophy Resulting f..:

Butler, Kameryn M. ; Holt, Philip J. ; Milla, Sarah S....
Case Reports in Genetics. 2018 (2018) - p. 1-4 , 2018

Link: https://doi.org/10.1155/..