E-LIB Suche - Ergebnisse für: Dies, Kira A.

1

Large 22q13.3 deletions perturb peripheral transcriptomic a..:

Breen, Michael S. ; Fan, Xuanjia ; Levy, Tess...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100145 , 2023

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

2

Toward representative genomic research: the children's rare..:

Frazier, Zoë J. ; Brown, Eurnestine ; Rockowitz, Shira...
Therapeutic Advances in Rare Disease. 4 (2023) - p. , 2023

Link: https://doi.org/10.1177/..

3

Emerging roles and opportunities for rare disease patient a..:

Patterson, Amy M. ; O'Boyle, Megan ; VanNoy, Grace E..
Therapeutic Advances in Rare Disease. 4 (2023) - p. , 2023

Link: https://doi.org/10.1177/..

4

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/..

5

A randomized controlled trial of everolimus for neurocognit..:

Srivastava, Siddharth ; Jo, Booil ; Zhang, Bo...
Human Molecular Genetics. 31 (2022) 20 - p. 3393-3404 , 2022

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

6

GENE TARGET: A framework for evaluating Mendelian neurodeve..:

Chopra, Maya ; Modi, Meera E. ; Dies, Kira A....
Molecular Therapy - Methods & Clinical Development. 27 (2022) - p. 32-46 , 2022

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

7

Validation of a computational phenotype for finding patient..:

Kothari, Cartik ; Srivastava, Siddharth ; Kousa, Youssef...
Journal of Neurodevelopmental Disorders. 14 (2022) 1 - p. , 2022

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

8

Neurodevelopmental copy-number variants: A roadmap to impro..:

Buttermore, Elizabeth ; Chamberlain, Stormy ; Cody, Jannine...
The American Journal of Human Genetics. 109 (2022) 8 - p. 1353-1365 , 2022

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

9

Cross-level analysis of molecular and neurobehavioral funct..:

Frazier, Thomas W. ; Jaini, Ritika ; Busch, Robyn M....
Molecular Autism. 12 (2021) 1 - p. , 2021

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

10

Parent-reported measure of repetitive behavior in Phelan-Mc..:

Srivastava, Siddharth ; Condy, Emma ; Carmody, Erin...
Journal of Neurodevelopmental Disorders. 13 (2021) 1 - p. , 2021

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

11

Correction: Low-level mosaicism in tuberous sclerosis compl..:

Giannikou, Krinio ; Lasseter, Kathryn D. ; Grevelink, Joannes M....
Genetics in Medicine. 23 (2021) 10 - p. 2022 , 2021

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

12

A randomized double-blind controlled trial of everolimus in..:

Hardan, Antonio Y. ; Jo, Booil ; Frazier, Thomas W....
Contemporary Clinical Trials Communications. 21 (2021) - p. 100733 , 2021

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

13

Patterns of healthcare utilization in a pediatric genetic c..:

Nagy, Anna ; Kritzer, Amy ; Dies, Kira.
Molecular Genetics and Metabolism. 132 (2021) - p. S333-S334 , 2021

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

14

Defining the clinical, molecular and imaging spectrum of ad..:

Ebrahimi-Fakhari, Darius ; Teinert, Julian ; Behne, Robert...
Brain. , 2020

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

15

Pilot Study of Neurodevelopmental Impact of Early Epilepsy ..:

Grayson, Leslie E. ; Peters, Jurriaan M. ; McPherson, Tarrant...
Pediatric Neurology. 109 (2020) - p. 39-46 , 2020

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