E-LIB Suche - Ergebnisse für: Cho, Megan T

1

Beyond multiple choice: Clinical simulation as a rigorous a..:

Cho, Megan T. ; Davis, Claire ; Lowe, Chenery...
Journal of Genetic Counseling. 33 (2024) 1 - p. 118-123 , 2024

2

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:

Martin, Carol-Anne ; Sarlós, Kata ; Logan, Clare V....
The American Journal of Human Genetics. 111 (2024) 5 - p. 996 , 2024

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

3

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: ..:

Guerrini, Renzo ; Mei, Davide ; Kerti-Szigeti, Katalin...
Brain. 145 (2022) 8 - p. 2687-2703 , 2022

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

4

Measuring quality and value in genetic counseling: The curr..:

Higgs, Emily ; Wain, Karen E. ; Wynn, Julia...
Journal of Genetic Counseling. 32 (2022) 2 - p. 315-324 , 2022

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

5

A qualitative study of Latinx parents' experiences of clini..:

Luksic, Daniel ; Sukhu, Radha ; Koval, Carrie...
Journal of Genetic Counseling. 29 (2020) 4 - p. 574-586 , 2020

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

6

Estimating the relative frequency of leukodystrophies and r..:

Schmidt, Johanna L. ; Pizzino, Amy ; Nicholl, Jessica...
American Journal of Medical Genetics Part A. 182 (2020) 8 - p. 1906-1912 , 2020

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

7

Characterization of SETD1A haploinsufficiency in humans and..:

Kummeling, Joost ; Stremmelaar, Diante E. ; Raun, Nicholas...
Molecular Psychiatry. 26 (2020) 6 - p. 2013-2024 , 2020

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

8

Histone H3.3 beyond cancer: Germline mutations inHistone 3 ..:

Bryant, Laura ; Li, Dong ; Cox, Samuel G....
Science Advances. 6 (2020) 49 - p. , 2020

Link: https://doi.org/10.1126/..

9

Impact of patient education videos on genetic counseling ou..:

Hernan, Rebecca ; Cho, Megan T. ; Wilson, Ashley L....
Patient Education and Counseling. 103 (2020) 1 - p. 127-135 , 2020

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

10

Advancing the genetic counseling profession through researc..:

Senter, Leigha ; Austin, Jehannine C. ; Carey, Meghan...
Journal of Genetic Counseling. 29 (2020) 6 - p. 884-887 , 2020

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

11

TANGO2: expanding the clinical phenotype and spectrum of pa..:

Dines, Jennifer N. ; Golden-Grant, Katie ; LaCroix, Amy...
Genetics in Medicine. 21 (2019) 3 - p. 601-607 , 2019

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

12

Correction: TANGO2: expanding the clinical phenotype and sp..:

Dines, Jennifer N. ; Golden-Grant, Katie ; LaCroix, Amy...
Genetics in Medicine. 21 (2019) 8 - p. 1899 , 2019

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

13

MN1 C-terminal truncation syndrome is a novel neurodevelopm..:

Mak, Christopher C Y ; Doherty, Dan ; Lin, Angela E...
Brain. 143 (2019) 1 - p. 55-68 , 2019

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

14

De novo variants in HK1 associated with neurodevelopmental ..:

Okur, Volkan ; Cho, Megan T. ; van Wijk, Richard...
European Journal of Human Genetics. 27 (2019) 7 - p. 1081-1089 , 2019

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

15

Redefining the Etiologic Landscape of Cerebellar Malformati..:

Aldinger, Kimberly A. ; Timms, Andrew E. ; Thomson, Zachary...
The American Journal of Human Genetics. 105 (2019) 3 - p. 606-615 , 2019

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