E-LIB Suche - Ergebnisse für: Truty, Rebecca

1

Systematic use of phenotype evidence in clinical genetic te..:

Johnson, Britt ; Ouyang, Karen ; Frank, Lauren...
American Journal of Medical Genetics Part A. 188 (2022) 9 - p. 2642-2651 , 2022

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

2

Value of genetic testing for pediatric epilepsy: Driving ea..:

Leal‐Pardinas, Fernanda ; Truty, Rebecca ; McKnight, Dianalee A....
Epilepsia. 63 (2022) 7 - p. , 2022

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

3

Scalable detection of technically challenging variants thro..:

Rojahn, Susan ; Hambuch, Tina ; Adrian, Jessika...
Molecular Genetics & Genomic Medicine. 10 (2022) 12 - p. , 2022

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

4

Clinical utility of a sponsored, no-cost skeletal dysplasia..:

Seratti, Guillermo ; Pansare, Vikram ; Pang, Tiffany Yar...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S98 , 2021

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

5

Spectrum of splicing variants in disease genes and the abil..:

Truty, Rebecca ; Ouyang, Karen ; Rojahn, Susan...
The American Journal of Human Genetics. 108 (2021) 4 - p. 696-708 , 2021

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

6

Elucidating clinical phenotypic variability associated with..:

Nykamp, Keith ; Truty, Rebecca ; Riethmaier, Darlene...
Human Mutation. 42 (2021) 9 - p. 1165-1172 , 2021

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

7

Clinical utility of a sponsored gene panel testing program ..:

Pang, Tiffany ; Leal-Pardinas, Fernanda ; Truty, Rebecca...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S82 , 2021

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

8

Re-evaluating cancer risks associated with the CHEK2 p.Ser4..:

Laitman, Yael ; Nielsen, Sarah M. ; Hatchell, Kathryn E....
Familial Cancer. 21 (2021) 3 - p. 305-308 , 2021

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

9

Comprehensive Genetic Testing for Pediatric Hypertrophic Ca..:

Gal, Dana B. ; Morales, Ana ; Rojahn, Susan...
Pediatric Cardiology. 43 (2021) 3 - p. 616-623 , 2021

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

10

A comprehensive locus specific database of PHEX gene varian..:

Miller, Nicole ; Daugherty, Sean ; Sarafrazi, Soodabeh...
Molecular Genetics and Metabolism. 132 (2021) - p. S133 , 2021

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

11

Novel PHEX gene locus‐specific database: Comprehensive char..:

Sarafrazi, Soodabeh ; Daugherty, Sean C. ; Miller, Nicole...
Human Mutation. 43 (2021) 2 - p. 143-157 , 2021

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

12

Clinical utility of a sponsored, no-cost skeletal dysplasia..:

Seratti, Guillermo ; Pang, Tiffany ; Pansare, Vikram...
Molecular Genetics and Metabolism. 132 (2021) - p. S201 , 2021

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

13

Clinical utility of a sponsored gene panel testing program ..:

Pang, Tiffany ; Truty, Rebecca ; McKnight, Dianalee A....
Molecular Genetics and Metabolism. 132 (2021) - p. S204 , 2021

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

14

SMA Identified: Clinical and Molecular Findings From a Spon..:

Bowen, B. Monica ; Truty, Rebecca ; Aradhya, Swaroop...
Frontiers in Neurology. 12 (2021) - p. , 2021

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

15

PIGG variant pathogenicity assessment reveals characteristi..:

Tremblay-Laganière, Camille ; Maroofian, Reza ; Nguyen, Thi Tuyet Mai...
Genetics in Medicine. 23 (2021) 10 - p. 1873-1881 , 2021

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