E-LIB Suche - Ergebnisse für: Horner, Vanessa L.

1

P606: Finding answers for clinical exome-negative patients:..:

Meyn, Stephen ; Webb, Bryn ; Pavelek, Derek...
Genetics in Medicine Open. 2 (2024) - p. 101512 , 2024

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

2

The challenges and opportunities of offering and integratin..:

Deignan, Joshua L. ; Aggarwal, Vimla ; Bale, Allen E....
Genetics in Medicine Open. , 2024

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

3

A survey of chromosomal instability measures across mechani..:

Lynch, Andrew R. ; Bradford, Shermineh ; Zhou, Amber S....
Proceedings of the National Academy of Sciences. 121 (2024) 16 - p. , 2024

Link: https://doi.org/10.1073/..

4

97. A rare case of low-hypodiploid acute lymphoblastic leuk..:

Seifi, Morteza ; Blumer, Randee ; Walters, Amber...
Cancer Genetics. 278-279 (2023) - p. 30 , 2023

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

5

What lies in-between: C3 glomerulopathy with non-hemolytic ..:

Jandal, Ali ; Zhong, Weixiong ; Gopal, Deepak...
The American Journal of the Medical Sciences. 365 (2023) 3 - p. 286-293 , 2023

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

6

Postmortem genetic testing in sudden unexplained death: A p..:

Rohrer, Charles T. ; Lager, Angela M. ; Brooks, Erin G..
Journal of Forensic Sciences. 68 (2023) 6 - p. 2065-2075 , 2023

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

7

Familial Hypercholesterolemia Biomarker Distribution in Dri..:

Held, Patrice K. ; Lasarev, Michael ; Zhang, Xiao...
The Journal of Pediatrics. 259 (2023) - p. 113469 , 2023

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

8

Points to consider in the practice of postmortem genetic te..:

Deignan, Joshua L. ; De Castro, Mauricio ; Horner, Vanessa L....
Genetics in Medicine. 25 (2023) 5 - p. 100017 , 2023

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

9

Elevated levels of FMRP-target MAP1B impair human and mouse..:

Guo, Yu ; Shen, Minjie ; Dong, Qiping...
Nature Communications. 14 (2023) 1 - p. , 2023

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

10

P521: Application of long read whole genome sequencing to e..:

Nguyen, Hieu ; Frater-Rubsam, Leah ; Hall, April..
Genetics in Medicine Open. 1 (2023) 1 - p. 100568 , 2023

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

11

Needle in a haystack or elephant in the room? Identifying g..:

Reinig, Erica F. ; Rubinstein, Jeremy D. ; Patil, Apoorva T....
Leukemia. 37 (2023) 8 - p. 1589-1599 , 2023

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

12

Analytical Validation of Familial Hypercholesterolemia Biom..:

Held, Patrice K. ; Campbell, Kristin ; Wiberley-Bradford, Amy E....
International Journal of Neonatal Screening. 8 (2022) 1 - p. 14 , 2022

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

13

eP060: Characterizing the complex chromosomal rearrangement..:

Shao, Xiangqiang ; Johnson, Eric ; Henderson, Les..
Genetics in Medicine. 24 (2022) 3 - p. S39 , 2022

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

14

Interpretation and reporting of large regions of homozygosi..:

Gonzales, Patrick R. ; Andersen, Erica F. ; Brown, Teneille R....
Genetics in Medicine. 24 (2022) 2 - p. 255-261 , 2022

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

15

21. A case of acute myeloid leukemia with gain of two copie..:

Guo, Fen ; Johnson, Eric ; Henderson, Les...
Cancer Genetics. 252-253 (2021) - p. S7-S8 , 2021

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