E-LIB Suche - Ergebnisse für: Deardorff, Matthew A

1

P562: A model for genetic counselor result triage in a busy..:

Blanco, Kirsten ; Gabriel, Melissa ; Mills, Ashley...
Genetics in Medicine Open. 2 (2024) - p. 101461 , 2024

2

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N.W. ; Shimamura, Akiko...
Human Genetics and Genomics Advances. 5 (2024) 2 - p. 100273 , 2024

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

3

Improving Real-Time Aerial 3D Reconstruction: Towards Fusio..:

, In: 2023 IEEE Applied Imagery Pattern Recognition Workshop (AIPR),

Akers, Jack ; Buck, Andrew ; Anderson, Derek... - p. 1-8 , 2023

Link: https://doi.org/10.1109/..

4

Frame Selection Strategies for Real-Time Structure-from-Mot..:

, In: 2023 IEEE Applied Imagery Pattern Recognition Workshop (AIPR),

Buck, Andrew R. ; Akers, Jack D. ; Anderson, Derek T.... - p. 1-8 , 2023

Link: https://doi.org/10.1109/..

5

54. VMD4Kids: A highly sensitive NGS panel to detect low-le..:

Dharmadhikari, Avinash ; Ostrow, Dejerianne ; Maglinte, Dennis...
Cancer Genetics. 278-279 (2023) - p. 17 , 2023

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

6

Genomic sequencing in a cohort of individuals with fibular ..:

Matalon, Dena R. ; Bhoj, Elizabeth J. ; Li, Dong...
American Journal of Medical Genetics Part A. 191 (2023) 4 - p. 977-982 , 2023

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

7

Genomic and phenotypic characterization of 404 individuals ..:

Kayumi, Sayaka ; Pérez-Jurado, Luis A. ; Palomares, María...
Genetics in Medicine. 24 (2022) 11 - p. 2351-2366 , 2022

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

8

Molecular Diagnostic Outcomes from 700 Cases:

Murrell, Jill R. ; Nesbitt, Addie May I. ; Baker, Samuel W....
The Journal of Molecular Diagnostics. 24 (2022) 3 - p. 274-286 , 2022

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

9

eP048: Identifying cancer predisposition in a series of 1,5..:

Ji, Jianling ; Schmidt, Ryan ; Yellapantula, Venkata...
Genetics in Medicine. 24 (2022) 3 - p. S31 , 2022

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

10

eP221: Increased expression of ZFPM2 bypasses SRY to drive ..:

Ragno, Leah ; Yang, Daphne ; Bhatti, Trisha...
Genetics in Medicine. 24 (2022) 3 - p. S137-S138 , 2022

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

11

Structural analysis of histone deacetylase 8 mutants associ..:

Osko, Jeremy D. ; Porter, Nicholas J. ; Decroos, Christophe...
Journal of Structural Biology. 213 (2021) 1 - p. 107681 , 2021

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

12

Cornelia de Lange syndrome and the Cohesin complex: Abstrac..:

Oliver, Chris ; Groves, Laura ; Hansen, Blake D....
American Journal of Medical Genetics Part A. 188 (2021) 3 - p. 1005-1014 , 2021

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

13

The chromatin remodeler ISWI acts duringDrosophiladevelopme..:

Gong, Naihua N. ; Dilley, Leela Chakravarti ; Williams, Charlette E....
Science Advances. 7 (2021) 8 - p. , 2021

Link: https://doi.org/10.1126/..

14

SETD1B mutation identified in 15-year-old male with neurode..:

Quindipan, Catherine ; Raca, Gordana ; Holder, Deborah.
Molecular Genetics and Metabolism. 132 (2021) - p. S75 , 2021

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

15

Nonlethal presentations of CYP26B1‐related skeletal anomali..:

Grand, Katheryn ; Skraban, Cara M. ; Cohen, Jennifer L....
American Journal of Medical Genetics Part A. 185 (2021) 9 - p. 2766-2775 , 2021

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