E-LIB Suche - Ergebnisse für: Quinonez, Shane

1

Second tier testing for newborn screening: The Michigan exp..:

Fisher, Rachel ; Quinonez, Shane ; Spender, Linda...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S56 , 2020

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

2

78. APPLICANTS? WE HAVE AN APP FOR THAT!:

Green, LaGail ; DelGiudice, Andrea ; Gross, Elise...
Academic Pediatrics. 19 (2019) 6 - p. e36 , 2019

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

3

A new POT1 germline mutation—expanding the spectrum of POT1..:

Wilson, Tremika Le-Shan ; Hattangady, Namita ; Lerario, Antonio Marcondes...
Familial Cancer. 16 (2017) 4 - p. 561-566 , 2017

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

4

Multiple congenital anomalies and developmental delay in a ..:

Nelson, Marc ; Quinonez, Shane ; Ackley, Todd..
American Journal of Medical Genetics Part A. 155 (2011) 3 - p. 612-617 , 2011

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

5

Implementation of a dedicated cascade testing clinic for pa..:

Jacobs, Michelle F. ; Koeppe, Erika S. ; Chase, Colby L....
Journal of Genetic Counseling. , 2023

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

6

Rare disease therapeutics: The future of medical genetics i..:

Connolly, Christopher D. ; Quinonez, Shane C. ; Ames, Elizabeth G.
Genetics in Medicine. 25 (2023) 2 - p. 100339 , 2023

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

7

Semaphorin-Plexin Signaling: From Axonal Guidance to a New ..:

Steele, Jacqueline L. ; Morrow, Michelle M. ; Sarnat, Harvey B....
Pediatric Neurology. 126 (2022) - p. 65-73 , 2022

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

8

The introduction of clinical genetic testing in Ethiopia: E..:

Quinonez, Shane C. ; Terefework, Zewdu
American Journal of Medical Genetics Part A. 185 (2021) 10 - p. 2995-3004 , 2021

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

9

Trainee perspectives of COVID-19 impact on medical genetics..:

Pritchard, Amanda Barone ; Sloan-Heggen, Christina ; Keegan, Catherine E..
Genetics in Medicine. 23 (2021) 5 - p. 956-962 , 2021

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

10

A 1‐year and 4‐month‐old child with mucopolysaccharidoses t..:

Deribessa, Solomie Jebessa ; Bisrat, Mekdes Endale ; Terefework, Zewdu.
Clinical Case Reports. 9 (2021) 11 - p. , 2021

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

11

The introduction of genetic counseling in Ethiopia: Results..:

Quinonez, Shane C. ; O'Connor, Bridget C. ; Jacobs, Michelle F....
PLOS ONE. 16 (2021) 7 - p. e0255278 , 2021

Link: https://doi.org/10.1371/..

12

The diagnosis of inborn errors of metabolism in previously ..:

Lee, Kristen N. ; Uhlmann, Wendy ; Hipp, Lauren.
Molecular Genetics and Metabolism Reports. 25 (2020) - p. 100653 , 2020

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

13

Correction: The CHD4-related syndrome: a comprehensive inve..:

Weiss, Karin ; Lazar, Hayley P. ; Kurolap, Alina...
Genetics in Medicine. 22 (2020) 3 - p. 669 , 2020

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

14

Dramatic Improvement in Seizures With Phenytoin Treatment i..:

Dang, Louis T. ; Quinonez, Shane C. ; Becka, Bridget R...
Pediatric Neurology. 108 (2020) - p. 121-122 , 2020

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

15

Knowledge and attitudes about genetic counseling in patient..:

Jacobs, Michelle F. ; O'Connor, Bridget C. ; Weldetsadik, Abate Yeshidinber...
Journal of Genetic Counseling. 30 (2020) 2 - p. 544-552 , 2020

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