E-LIB Suche - Ergebnisse für: Mason‐Suares, Heather

1

Chromosomal microarray analysis in pregnancy loss: Is it ti..:

Schilit, Samantha L. P. ; Studwell, Courtney ; Flatley, Pamela...
Prenatal Diagnosis. 42 (2022) 12 - p. 1545-1553 , 2022

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

2

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits..:

Witkowski, Leora ; Dillon, Mitchell W. ; Murphy, Elissa..
Molecular Genetics & Genomic Medicine. 8 (2020) 4 - p. , 2020

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

3

When ultrasound anomalies are present: An estimation of the..:

Reimers, Rebecca M. ; Mason‐Suares, Heather ; Little, Sarah E....
Prenatal Diagnosis. 38 (2018) 4 - p. 250-257 , 2018

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

4

Reporting of Diagnostic Cytogenetic Results:

Giersch, Anne B.S. ; Bieber, Frederick R. ; Dubuc, Adrian M....
Current Protocols in Human Genetics. 89 (2016) 1 - p. , 2016

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

5

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/..

6

Leveraging Unique Chromosomal Microarray Probes to Accurate..:

Sack, Laura M ; Mertens, Lauren ; Murphy, Elissa...
Clinical Chemistry. 69 (2023) 6 - p. 583-594 , 2023

Link: https://doi.org/10.1093/..

7

P504: A universal filter enabling high throughput genomic s..:

Machini, Kalotina ; Hao, Limin ; Zook, Hana...
Genetics in Medicine Open. 1 (2023) 1 - p. 100551 , 2023

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

8

eP390: Leveraging unique chromosomal microarray probes to r..:

Sack, Laura ; Mertens, Lauren ; Murphy, Elissa...
Genetics in Medicine. 24 (2022) 3 - p. S246 , 2022

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

9

eP395: Calculating recurrence risk in an individual with an..:

Schilit, Samantha ; Bell, Avery ; Rowsey, Ross...
Genetics in Medicine. 24 (2022) 3 - p. S248-S249 , 2022

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

10

RASopathies:

, In: Clinical DNA Variant Interpretation,

Vincent, Lisa M. ; Gripp, Karen W. ; Mason-Suares, Heather - p. 389-398 , 2021

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

11

Contributors:

, In: Clinical DNA Variant Interpretation,

Alves, Ana Catarina ; Austin-Tse, Christina Anne ; Bourbon, Mafalda... - p. xvii-xxi , 2021

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

12

Leveraging unique chromosomal microarray probes to accurate..:

Sack, Laura ; Mertens, Lauren ; Murphy, Elissa..
Molecular Genetics and Metabolism. 132 (2021) - p. S265-S266 , 2021

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

13

Chromosomal microarray testing of products of conception ti..:

Schilit, Samantha ; Studwell, Courtney ; Flatley, Pamela...
Molecular Genetics and Metabolism. 132 (2021) - p. S310 , 2021

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

14

Considerations for clinical curation, classification, and r..:

Senol-Cosar, Ozlem ; Schmidt, Ryan J. ; Qian, Emily...
Genetics in Medicine. 21 (2019) 12 - p. 2765-2773 , 2019

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

15

Polygenic Prediction of Weight and Obesity Trajectories fro..:

Khera, Amit V. ; Chaffin, Mark ; Wade, Kaitlin H....
Cell. 177 (2019) 3 - p. 587-596.e9 , 2019

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