E-LIB Suche - Ergebnisse für: Hewson, Stacy

1

De novo variants in RNF213 are associated with a clinical s..:

Brunet, Theresa ; Zott, Benedikt ; Lieftüchter, Victoria...
Genetics in Medicine. 26 (2024) 2 - p. 101013 , 2024

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

2

Biallelic CRELD1 variants cause a multisystem syndrome, inc..:

Jeffries, Lauren ; Mis, Emily K. ; McWalter, Kirsty...
Genetics in Medicine. 26 (2024) 2 - p. 101023 , 2024

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

3

Management and Outcomes of Very Long-Chain Acyl-CoA Dehydro..:

Al Bandari, Maria ; Nagy, Laura ; Cruz, Vivian...
International Journal of Neonatal Screening. 10 (2024) 2 - p. 29 , 2024

Link: https://doi.org/10.3390/..

4

Genetics providers' perspectives on the use of digital tool..:

Lee, Whiwon ; Hirjikaka, Daena ; Grewal, Sonya...
Genetics in Medicine. 26 (2024) 6 - p. 101122 , 2024

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

5

Exploring Barriers and Facilitators to Indirect Cascade Scr..:

Dickson, Megan A. ; Zahavich, Laura ; Rush, Janet...
CJC Pediatric and Congenital Heart Disease. 2 (2023) 5 - p. 211-218 , 2023

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

6

Finding the sweet spot: a qualitative study exploring patie..:

Luca, Stephanie ; Clausen, Marc ; Shaw, Angela...
Human Genetics. 142 (2023) 3 - p. 321-330 , 2023

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

7

Clinical features, functional consequences, and rescue phar..:

Allen, James P ; Garber, Kathryn B ; Perszyk, Riley...
Human Molecular Genetics. 33 (2023) 4 - p. 355-373 , 2023

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

8

The Clinician-reported Genetic testing Utility InDEx (C-GUI..:

Hayeems, Robin Z. ; Luca, Stephanie ; Ungar, Wendy J....
Genetics in Medicine. 24 (2022) 2 - p. 430-438 , 2022

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

9

Biallelic loss-of-function variants in RABGAP1 cause a nove..:

Oh, Rachel Youjin ; Deshwar, Ashish R. ; Marwaha, Ashish...
Genetics in Medicine. 24 (2022) 11 - p. 2399-2407 , 2022

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

10

A pathogenic UFSP2 variant in an autosomal recessive form o..:

Ni, Min ; Afroze, Bushra ; Xing, Chao...
Genetics in Medicine. 23 (2021) 5 - p. 900-908 , 2021

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

11

Extended Phenotyping and Functional Validation Facilitate D..:

Shao, Zhuo ; Masuho, Ikuo ; Tumber, Anupreet...
Genes. 12 (2021) 9 - p. 1352 , 2021

Link: https://doi.org/10.3390/..

12

A Cross-Sectional Study of Nemaline Myopathy:

Amburgey, Kimberly ; Acker, Meryl ; Saeed, Samia...
Neurology. 96 (2021) 10 - p. , 2021

Link: https://doi.org/10.1212/..

13

The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Ca..:

Alsowat, Daad ; Whitney, Robyn ; Hewson, Stacy...
Child Neurology Open. 8 (2021) - p. 2329048X2110128 , 2021

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

14

Outcomes of patients with cobalamin C deficiency: A single ..:

Bourque, Danielle K. ; Mellin‐Sanchez, Lizbeth E. ; Bullivant, Garrett...
JIMD Reports. 57 (2020) 1 - p. 102-114 , 2020

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

15

Homozygous GLUL deletion is embryonically viable and leads ..:

Roifman, Maian ; Niles, Kirsten M. ; MacNeil, Lauren...
Clinical Genetics. 98 (2020) 6 - p. 613-619 , 2020

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