E-LIB Suche - Ergebnisse für: Buckingham, Kati J

1

MYH3 mutations associated with distal arthrogryposis alter ..:

Mandrycky, Christian ; Mohran, Saffie ; Childers, Matthew C....
Biophysical Journal. 123 (2024) 3 - p. 275a , 2024

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

2

P194: SeqFirst mitigates race-based disparities in access t..:

Wenger, Tara ; Keefe, Alexandra ; Kruidenier, Lukas...
Genetics in Medicine Open. 2 (2024) - p. 101091 , 2024

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

3

The clinical utility of sequencing the entirety of CFTR:

Sheridan, Molly B ; Aksit, Melis A ; Pagel, Kymberleigh...
Journal of Cystic Fibrosis. , 2024

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

4

P214: SeqFirst DDi: Early whole genome sequencing improves ..:

Dipple, Katrina ; Doherty, Daniel ; Anderson, Kailyn...
Genetics in Medicine Open. 2 (2024) - p. 101111 , 2024

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

5

P208: SeqFirst: Impact of a precise genetic diagnosis on en..:

Keefe, Alexandra ; Wenger, Tara ; Yu, Joon-Ho...
Genetics in Medicine Open. 1 (2023) 1 - p. 100236 , 2023

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

6

P414: SeqFirst: Parental perspectives on receiving results ..:

Wenger, Tara ; Keefe, Alexandra ; Sikes, Megan...
Genetics in Medicine Open. 1 (2023) 1 - p. 100450 , 2023

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

7

Precision medicine for developmental and epileptic encephal..:

Esterhuizen, Alina I. ; Tiffin, Nicki ; Riordan, Gillian...
Genetics in Medicine. 25 (2023) 2 - p. 100333 , 2023

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

8

Variants in ACTC1 underlie distal arthrogryposis accompanie..:

Chong, Jessica X. ; Childers, Matthew Carter ; Marvin, Colby T....
Human Genetics and Genomics Advances. 4 (2023) 3 - p. 100213 , 2023

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

9

Embryonic myosin mutations alter the mechanics and maturati..:

Mandrycky, Christian J. ; Mohran, Saffie ; Childers, Matthew C....
Biophysical Journal. 122 (2023) 3 - p. 115a , 2023

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

10

eP281: SeqFirst-neo: Improving access equity for a precise ..:

Wenger, Tara ; Scott, Abbey ; Sikes, Megan...
Genetics in Medicine. 24 (2022) 3 - p. S178 , 2022

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

11

Pleiotropic modifiers of age-related diabetes and neonatal ..:

Aksit, Melis A. ; Ling, Hua ; Pace, Rhonda G....
The American Journal of Human Genetics. 109 (2022) 10 - p. 1894-1908 , 2022

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

12

Club cell secretory protein and lung function in children w..:

Zhai, Jing ; Emond, Mary J. ; Spangenberg, Amber...
Journal of Cystic Fibrosis. 21 (2022) 5 - p. 811-820 , 2022

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

13

Mutations in the translocon‐associated protein complex subu..:

Ng, Bobby G. ; Lourenço, Charles M. ; Losfeld, Marie‐Estelle...
Journal of Inherited Metabolic Disease. 42 (2019) 5 - p. 993-997 , 2019

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

14

Correction: Whole genome sequencing of extreme phenotypes i..:

Mackelprang, Romel D. ; Bamshad, Michael J. ; Chong, Jessica X....
PLOS Pathogens. 15 (2019) 2 - p. e1007588 , 2019

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

15

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinica..:

, In: JIMD Reports; JIMD Reports, Volume 44,

University of Washington Center for Mendelian Genomics ; Ng, Bobby G. ; Underhill, Hunter R.... - p. 85-92 , 2018

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