E-LIB Suche - Ergebnisse für: Byers, Heather M.

1

Short Bones, Renal Stones, and Diagnostic Moans: Hypercalce..:

Tise, Christina G. ; Matalon, Dena R. ; Manning, Melanie A...
Journal of Investigative Medicine High Impact Case Reports. 10 (2022) - p. 232470962211018 , 2022

Link: https://doi.org/10.1177/..

2

Biallelic UBE4A loss-of-function variants cause intellectua..:

Melo, Uirá Souto ; Bonner, Devon ; Kent Lloyd, Kevin C....
Genetics in Medicine. 23 (2021) 4 - p. 661-668 , 2021

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

3

How geneticists think about Differences/Disorders of Sexual..:

Byers, Heather M. ; Fossum, Magdalena ; Wu, Hsi-Yang
Journal of Pediatric Urology. 16 (2020) 6 - p. 760-767 , 2020

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

4

The Impact of Rapid Exome Sequencing on Medical Management ..:

Freed, Amanda S. ; Clowes Candadai, Sarah V. ; Sikes, Megan C....
The Journal of Pediatrics. 226 (2020) - p. 202-212.e1 , 2020

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

5

Medical genetics education in the midst of the COVID‐19 pan..:

Regier, Debra S. ; Smith, Wendy E. ; Byers, Heather M.
American Journal of Medical Genetics Part A. 182 (2020) 6 - p. 1302-1308 , 2020

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

6

Factor VIII and vWF deficiency in STT3A‐CDG:

Chang, Irene J. ; Byers, Heather M. ; Ng, Bobby G....
Journal of Inherited Metabolic Disease. 42 (2019) 2 - p. 325-332 , 2019

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

7

Expanding the phenotype of congenital central hypoventilati..:

Byers, Heather M. ; Chen, Maida ; Gelfand, Andrew S....
American Journal of Medical Genetics Part A. 176 (2018) 6 - p. 1398-1404 , 2018

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

8

Discordant sex between fetal screening and postnatal phenot..:

Byers, Heather M. ; Neufeld-Kaiser, Whitney ; Chang, Edith Y....
Journal of Perinatology. 39 (2018) 1 - p. 28-33 , 2018

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

9

Acute liver failure in neonates with undiagnosed hereditary..:

Li, Hong ; Byers, Heather M. ; Diaz-Kuan, Alicia...
Molecular Genetics and Metabolism. 123 (2018) 4 - p. 428-432 , 2018

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

10

Minimal mosaicism, maximal phenotype: Discordance between c..:

Byers, Heather M. ; Jensen, Dana M. ; Glass, Ian A..
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 178 (2018) 3 - p. 374-378 , 2018

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

11

Unexpected ethical dilemmas in sex assignment in 46,XY DSD ..:

Byers, Heather M. ; Mohnach, Lauren H. ; Fechner, Patricia Y....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 175 (2017) 2 - p. 260-267 , 2017

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

12

Description of a new oncogenic mechanism for atypical terat..:

Byers, Heather M. ; Adam, Margaret P. ; LaCroix, Amy...
American Journal of Medical Genetics Part A. 173 (2016) 1 - p. 245-249 , 2016

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

13

Dramatic Response After Lamotrigine in a Patient With Epile..:

Byers, Heather M. ; Beatty, Christopher W. ; Hahn, Si Houn.
Pediatric Neurology. 60 (2016) - p. 79-82 , 2016

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

14

A proposed method to predict preterm birth using clinical d..:

Alleman, Brandon W. ; Smith, Amanda R. ; Byers, Heather M....
American Journal of Obstetrics and Gynecology. 208 (2013) 6 - p. 472.e1-472.e11 , 2013

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

15

Building Community Resilience: A Proactive, Measurable, Sca..:

Schulte, Scott A ; Fannin-Hughes, Ian J ; Byers, Heather M
Schulte, S. A., Fannin-Hughes, I. J., & Byers, H. M. (2021, November 30). Building community resilience: A proactive, measurable, scalable, and comprehensive resilience planning and forecasting model. University of Kansas. http://hdl.handle.net/1808/32223. , 2021

Link: http://hdl.handle.net/18..