E-LIB Suche - Ergebnisse für: Streff, Haley

1

Improving access to exome sequencing in a medically underse..:

Vuocolo, Blake ; German, Ryan J. ; Lalani, Seema R....
Genetics in Medicine. 26 (2024) 6 - p. 101102 , 2024

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

2

P211: Review of genomic test orders for pediatric inpatient..:

Streff, Haley ; Saba, Lisa ; Lopez-Terrada, Dolores.
Genetics in Medicine Open. 2 (2024) - p. 101108 , 2024

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

3

Burden re-analysis of neurodevelopmental disorder cohorts f..:

Smal, Noor ; Majdoub, Fatma ; Janssens, Katrien...
European Journal of Human Genetics. , 2024

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

4

Novel phenotype of aortic root dilatation and late‐onset me..:

Mackay, Laura ; Gijavanekar, Charul ; Streff, Haley...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1366-1372 , 2023

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

5

A novel de novo pathogenic variant in TBL1XR1 as a new prop..:

Tamma, Poornima L. ; Streff, Haley ; Murali, Chaya N.
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1576-1580 , 2023

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

6

Clinical genome sequencing: Three years' experience at a te..:

Kumar, Runjun D. ; Saba, Lisa F. ; Streff, Haley...
Genetics in Medicine. 25 (2023) 10 - p. 100916 , 2023

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

7

Perceived impact of ethnocultural competency training on ge..:

El Achi, Dina ; Brown, Austin ; Huguenard, Sarah...
Journal of Genetic Counseling. , 2023

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

8

Cascade testing after exome sequencing: Retrospective analy..:

Stefka, Julie ; Streff, Haley ; Liu, Pengfei..
Genetics in Medicine. 25 (2023) 5 - p. 100818 , 2023

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

9

P130: Case report: Phenotypic features among four first-deg..:

Bradley, Catherine ; Streff, Haley ; Bi, Weimin...
Genetics in Medicine Open. 1 (2023) 1 - p. 100159 , 2023

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

10

Access to clinically indicated genetic tests for pediatric ..:

Streff, Haley ; Uhles, Crescenda L. ; Fisher, Heather...
Genetics in Medicine. 25 (2023) 3 - p. 100350 , 2023

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

11

A familial deletion of 10p12.1 associated with thrombocytop..:

Manohar, Sujal ; Gofin, Yoel ; Streff, Haley...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 77-81 , 2023

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

12

P564: Genetic test stewardship for clinical exome sequencin..:

Streff, Haley ; Saba, Lisa ; Kumar, Runjun..
Genetics in Medicine Open. 1 (2023) 1 - p. 100611 , 2023

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

13

eP517: Differences in genetic testing uptake in a large met..:

Streff, Haley ; Chan, Katie ; Gerard, Amanda...
Genetics in Medicine. 24 (2022) 3 - p. S330 , 2022

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

14

Retrospective analysis of a clinical exome sequencing cohor..:

Chen, Chun-An ; Lattier, John ; Zhu, Wenmiao...
Genetics in Medicine. 24 (2022) 2 - p. 364-373 , 2022

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

15

eP025: Novel phenotype of aortic root dilatation and late o..:

Mackay, Laura ; Scaglia, Fernando ; Streff, Haley
Genetics in Medicine. 24 (2022) 3 - p. S17 , 2022

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