E-LIB Suche - Ergebnisse für: Towne, Meghan C.

1

Biallelic variants in GTF3C5, a regulator of RNA polymerase..:

Iwata-Otsubo, Aiko ; Skraban, Cara M. ; Yoshimura, Atsunori...
Human Genetics. 143 (2024) 3 - p. 437-453 , 2024

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

2

How parents of children with ataxia‐telangiectasia use dyna..:

Schiller, Julia ; Towne, Meghan C. ; Epstein, Rachel..
Journal of Genetic Counseling. 33 (2023) 2 - p. 301-313 , 2023

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

3

Inherited bone marrow failure with macrothrombocytopenia du..:

Shah, Yash B. ; Lin, Ping ; Chen, Stone...
British Journal of Haematology. 200 (2022) 2 - p. 222-228 , 2022

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

4

Diagnostic testing laboratories are valuable partners for d..:

Towne, Meghan C. ; Rossi, Mari ; Wayburn, Bess...
Human Mutation. , 2022

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

5

Novel variants in KAT6B spectrum of disorders expand our kn..:

Yabumoto, Megan ; Kianmahd, Jessica ; Singh, Meghna...
Molecular Genetics & Genomic Medicine. 9 (2021) 10 - p. , 2021

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

6

Misattributed parentage identified through diagnostic exome..:

Stefka, Julie ; El‐Khechen, Dima ; Cain, Taylor...
Journal of Genetic Counseling. 31 (2021) 3 - p. 631-640 , 2021

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

7

Backpack health reduces data‐sharing barriers between the m..:

May, Lauren ; Towne, Meghan C. ; Haynes, Ginger...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 187 (2020) 1 - p. 7-13 , 2020

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

8

Expanding the phenotypic spectrum associated with OPHN1 var..:

Schwartz, Talia S. ; Wojcik, Monica H. ; Pelletier, Renee C....
European Journal of Medical Genetics. 62 (2019) 2 - p. 137-143 , 2019

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

9

Clinical diagnostic exome sequencing in dystonia: Genetic t..:

Powis, Zöe ; Towne, Meghan C. ; Hagman, Kelly D.F....
Clinical Genetics. 97 (2019) 2 - p. 305-311 , 2019

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

10

Three‐generation family with novel contiguous gene deletion..:

Quiñones‐Pérez, Bianca ; VanNoy, Grace E. ; Towne, Meghan C....
American Journal of Medical Genetics Part A. 176 (2018) 3 - p. 560-569 , 2018

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

11

Genetic disorders and mortality in infancy and early childh..:

Wojcik, Monica H. ; Schwartz, Talia S. ; Yamin, Inbar...
Genetics in Medicine. 20 (2018) 11 - p. 1396-1404 , 2018

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

12

Novel mutation inCNTNAP1results in congenital hypomyelinati..:

Mehta, Paulomi ; Küspert, Melanie ; Bale, Tejus...
Muscle & Nerve. 55 (2017) 5 - p. 761-765 , 2017

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

13

Overlapping 16p13.11 deletion and gain of copies variations..:

Brownstein, Catherine A. ; Kleiman, Robin J. ; Engle, Elizabeth C....
American Journal of Medical Genetics Part A. 170 (2016) 5 - p. 1165-1173 , 2016

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

14

Expectation versus Reality: The Impact of Utility on Emotio..:

Cacioppo, Cara N. ; Chandler, Ariel E. ; Towne, Meghan C....
PLOS ONE. 11 (2016) 4 - p. e0153597 , 2016

Link: https://doi.org/10.1371/..

15

SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclon..:

Palmer, Samantha ; Towne, Meghan C. ; Pearl, Phillip L....
Pediatric Neurology. 64 (2016) - p. 77-79 , 2016

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