E-LIB Suche - Ergebnisse für: Hilton, Benjamin

1

A multi-center analysis of individuals with a 47,XXY/46,XX ..:

Guess, Tiffany ; Wheeler, Ferrin C. ; Yenemandra, Ashwini...
Genetics in Medicine. , 2024

2

P727: Rare disease diagnostics using RNA-Seq: How an invest..:

Coleman, Jessica Cooley ; Kandhadai, Adithya ; Clinemyer, Christa...
Genetics in Medicine Open. 2 (2024) - p. 101631 , 2024

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

3

Diagnostic utility and reporting recommendations for clinic..:

Kerkhof, Jennifer ; Rastin, Cassandra ; Levy, Michael A....
Genetics in Medicine. 26 (2024) 5 - p. 101075 , 2024

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

4

Diagnostic Methods for Ring Chromosomes:

, In: Human Ring Chromosomes,

Hilton, Benjamin ; DuPont, Barbara R. - p. 17-30 , 2024

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

5

Clinical Validation and Diagnostic Utility of Optical Genom..:

Sahajpal, Nikhil S. ; Mondal, Ashis K. ; Fee, Timothy...
The Journal of Molecular Diagnostics. 25 (2023) 4 - p. 234-246 , 2023

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

6

P549: Analysis of challenging products of conception cases ..:

Sahajpal, Nikhil ; Mondal, Ashis ; Singh, Harmanpreet...
Genetics in Medicine Open. 1 (2023) 1 - p. 100596 , 2023

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

7

P485: Evaluating novel dosage sensitivity predictors for in..:

Herriges, John ; Runke, Cassandra ; Lewis, Zoe...
Genetics in Medicine Open. 1 (2023) 1 - p. 100532 , 2023

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

8

P435: Diagnostic yield and copy number findings from 500 cl..:

Butler, Kameryn ; Hilton, Benjamin ; Fee, Timothy.
Genetics in Medicine Open. 1 (2023) 1 - p. 100482 , 2023

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

9

The smallest likely pathogenic duplication of a SOX9 enhanc..:

Sajan, Samin A. ; Brown, Carolyn M. ; Davis‐Keppen, Laura...
American Journal of Medical Genetics Part A. 191 (2023) 12 - p. 2831-2836 , 2023

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

10

P582: Exon-level copy number variations identified by whole..:

Wang, Jiyong ; Caylor, Raymond ; Jones, Julie...
Genetics in Medicine Open. 1 (2023) 1 - p. 100629 , 2023

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

11

Paternal UPD14 with sSMC derived from chromosome 14 in Kaga..:

Wang, Jiyong ; Lichty, Angie ; Johnson, Jill...
Chromosome Research. 31 (2023) 1 - p. , 2023

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

12

47. Optical genome mapping in hematological malignancy: Cli..:

Sahajpal, Nikhil ; Mondal, Ashis ; Singh, Harmanpreet...
Cancer Genetics. 278-279 (2023) - p. 15 , 2023

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

13

Optical Genome Mapping: Integrating Structural Variations f..:

Sahajpal, Nikhil Shri ; Mondal, Ashis K. ; Vashisht, Ashutosh...
Genes. 14 (2023) 9 - p. 1683 , 2023

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

14

Clinical Utility of Optical Genome Mapping and 523-Gene Nex..:

Sahajpal, Nikhil Shri ; Mondal, Ashis K. ; Singh, Harmanpreet...
Cancers. 15 (2023) 12 - p. 3214 , 2023

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

15

P657: NSD2 duplication results in distinct phenotype and DN..:

Hilton, Benjamin ; Sadikovic, Bekim ; Brusco, Alfredo...
Genetics in Medicine Open. 1 (2023) 1 - p. 100722 , 2023

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