E-LIB Suche - Ergebnisse für: Toriello, Helga V.

1

Cover:

Maj, Mary ; Taylor, Christie L. ; Landau, Kevin...
Molecular Genetics & Genomic Medicine. 11 (2023) 1 - p. , 2023

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

2

A novel SYNJ1 homozygous variant causing developmental and ..:

Maj, Mary ; Taylor, Christie L. ; Landau, Kevin...
Molecular Genetics & Genomic Medicine. 11 (2022) 1 - p. , 2022

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

3

2022 Association of Professors of Human and Medical Genetic..:

Massingham, Lauren J. ; Nuñez, Sabrina ; Bernstein, Jonathan A....
Genetics in Medicine. 24 (2022) 10 - p. 2167-2179 , 2022

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

4

Teaching perspectives on the communication of difficult new..:

Vanasse, Ashley M. ; Weiler, Tracey ; Roth, Elizabeth A....
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 299-305 , 2022

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

5

Literature review: Genetic conditions or anomalies in artwo..:

Toriello, Helga V.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 187 (2021) 2 - p. 111-121 , 2021

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

6

Emotional intelligence in undergraduate medical students: a..:

Toriello, Helga V. ; Van de Ridder, J. M. Monica ; Brewer, Patricia...
Advances in Health Sciences Education. 27 (2021) 1 - p. 167-187 , 2021

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

7

Correction to: Focused Revision: Policy statement on folic ..:

Prasad, Priya ; Mori, Mari ; Toriello, Helga V.
Genetics in Medicine. 23 (2021) 12 - p. 2469 , 2021

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

8

Focused Revision: Policy statement on folic acid and neural..:

Prasad, Priya ; Mori, Mari ; Toriello, Helga V.
Genetics in Medicine. 23 (2021) 12 - p. 2464-2466 , 2021

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

9

Addendum: ACMG Practice Guideline: lack of evidence for MTH..:

Bashford, Michael T. ; Hickey, Scott E. ; Curry, Cynthia J..
Genetics in Medicine. 22 (2020) 12 - p. 2125 , 2020

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

10

Correction: Addendum: ACMG Practice Guideline: lack of evid..:

Bashford, Michael T. ; Hickey, Scott E. ; Curry, Cynthia J..
Genetics in Medicine. 22 (2020) 9 - p. 1568 , 2020

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

11

Training the next generation of genomic medicine providers:..:

Dasgupta, Shoumita ; Feldman, Gerald L. ; Powell, Cynthia M....
Genetics in Medicine. 22 (2020) 10 - p. 1718-1722 , 2020

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

12

Experiences with offering pro bono medical genetics service..:

Sobering, Andrew K. ; Li, Dong ; Beighley, Jennifer S....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184 (2020) 4 - p. 1030-1041 , 2020

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

13

Update on the Toriello–Carey syndrome:

Toriello, Helga V. ; Colley, Chelsey ; Bamshad, Michael
American Journal of Medical Genetics Part A. 170 (2016) 10 - p. 2551-2558 , 2016

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

14

Neonatal progeriod syndrome associated with biallelic trunc..:

Jay, Allison M. ; Conway, Robert L. ; Thiffault, Isabelle...
American Journal of Medical Genetics Part A. 170 (2016) 12 - p. 3343-3346 , 2016

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

15

Oculoectodermal syndrome is a mosaic RASopathy associated w..:

Peacock, Jacqueline D. ; Dykema, Karl J. ; Toriello, Helga V....
American Journal of Medical Genetics Part A. 167 (2015) 7 - p. 1429-1435 , 2015

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