E-LIB Suche - Ergebnisse für: Steeves, Marcie

1

Recommendations for risk allele evidence curation, classifi..:

Schmidt, Ryan J. ; Steeves, Marcie ; Bayrak-Toydemir, Pinar...
Genetics in Medicine. 26 (2024) 3 - p. 101036 , 2024

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

2

O31: Risk allele evidence curation, classification, and rep..:

Lebo, Matthew ; Steeves, Marcie ; Benson, Katherine...
Genetics in Medicine Open. 1 (2023) 1 - p. 100457 , 2023

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

3

Parenthood among individuals with Turner syndrome: results ..:

Falsey, Erin ; Cirino, Allison L. ; Snyder, Emma..
Journal of Community Genetics. 13 (2022) 3 - p. 263-270 , 2022

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

4

Development of a clinical polygenic risk score assay and re..:

Hao, Limin ; Kraft, Peter ; Berriz, Gabriel F....
Nature Medicine. 28 (2022) 5 - p. 1006-1013 , 2022

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

5

Harmonizing variant classification for return of results in..:

Harrison, Steven M. ; Austin‐Tse, Christina A. ; Kim, Serra...
Human Mutation. 43 (2021) 8 - p. 1114-1121 , 2021

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

6

Development of a clinical assay for reporting polygenic ris..:

Lebo, Matthew ; Hao, Limin ; Berriz, Gabriel...
Molecular Genetics and Metabolism. 132 (2021) - p. S217 , 2021

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

7

Genetic counseling for women with 45,X/46,XX mosaicism: Tow..:

Snyder, Emma A. ; San Roman, Adrianna K. ; Piña-Aguilar, Raul E....
European Journal of Medical Genetics. 64 (2021) 3 - p. 104140 , 2021

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

8

Returning actionable genomic results in a research biobank:..:

Blout Zawatsky, Carrie L. ; Shah, Nidhi ; Machini, Kalotina...
The American Journal of Human Genetics. 108 (2021) 12 - p. 2224-2237 , 2021

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

9

Recognition and management of adults with Turner syndrome: ..:

Lin, Angela E. ; Prakash, Siddharth K. ; Andersen, Niels H....
American Journal of Medical Genetics Part A. 179 (2019) 10 - p. 1987-2033 , 2019

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

10

Author Correction: CHD3 helicase domain mutations cause a n..:

Blok, Lot Snijders ; Rousseau, Justine ; Twist, Joanna...
Nature Communications. 10 (2019) 1 - p. , 2019

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

11

Author Correction: CHD3 helicase domain mutations cause a n..:

Snijders Blok, Lot ; Rousseau, Justine ; Twist, Joanna...
Nature Communications. 10 (2019) 1 - p. , 2019

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

12

CHD3 helicase domain mutations cause a neurodevelopmental s..:

Snijders Blok, Lot ; Rousseau, Justine ; Twist, Joanna...
Nature Communications. 9 (2018) 1 - p. , 2018

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

13

Expanding the clinical and molecular findings in RASA1 capi..:

Wooderchak-Donahue, Whitney L. ; Johnson, Peter ; McDonald, Jamie...
European Journal of Human Genetics. 26 (2018) 10 - p. 1521-1536 , 2018

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

14

Opposite Modulation of RAC1 by Mutations in TRIO Is Associa..:

Barbosa, Sónia ; Greville-Heygate, Stephanie ; Bonnet, Maxime...
https://discovery.dundee.ac.uk/en/publications/87c862d0-bcc7-439e-a094-0a3d26713aa8. , 2020

Link: https://discovery.dundee..

15

Opposite Modulation of RAC1 by Mutations in TRIO Is Associa..:

Barbosa, Sonia ; Greville-Heygate, Stephanie ; Bonnet, Maxime...
https://research.rug.nl/en/publications/d5ee0169-17db-4993-b728-fd33e72fa922. , 2020

Link: https://hdl.handle.net/1..