E-LIB Suche - Ergebnisse für: Kopinsky, Sarina

1

Novel CRB1 pathogenic variant in Chuuk families with Leber ..:

Albakri, Amani ; Pisuchpen, Phattrawan ; Capasso, Jenina E....
American Journal of Medical Genetics Part A. 191 (2023) 4 - p. 1007-1012 , 2023

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

2

Leber congenital amaurosis in Chuuk, Federated States of Mi..:

Albakri, Amani S. ; Capasso, Jenina ; Kopinsky, Sarina...
Journal of American Association for Pediatric Ophthalmology and Strabismus. 22 (2018) 4 - p. e49 , 2018

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

3

A recurrent, non-penetrant sequence variant, p.Arg266Cys in..:

Bardakjian, Tanya ; Krall, Max ; Wu, Di...
American Journal of Ophthalmology Case Reports. 7 (2017) - p. 102-106 , 2017

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

4

SOX2 pathogenic variants with normal eyes: Expanding the ph..:

Okoye, Onochie ; Capasso, Jenina ; Kopinsky, Sarina M....
American Journal of Medical Genetics Part A. 191 (2023) 8 - p. 2198-2203 , 2023

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

5

Review of 37 patients with SOX2 pathogenic variants collect..:

Amlie‐Wolf, Louise ; Bardakjian, Tanya ; Kopinsky, Sarina M....
American Journal of Medical Genetics Part A. 188 (2021) 1 - p. 187-198 , 2021

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

6

Niflings are nephews and nieces:

Kopinsky, Sarina M.
Journal of Genetic Counseling. 3 (1994) 2 - p. 165-165 , 1994

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

7

"Value‐based directiveness" in genetic counseling:

Kopinsky, Sarina M. ; Kessler, Seymour
Journal of Genetic Counseling. 1 (1992) 4 - p. 345-349 , 1992

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

8

Novel CRB1 pathogenic variant in Chuuk families with Leber ..:

Albakri, Amani ; Pisuchpen, Phattrawan ; Capasso, Jenina...
qt20r8m9kr. , 2023

Link: https://escholarship.org..

9

A recurrent, non-penetrant sequence variant, p.Arg266Cys in..:

Bardakjian, Tanya ; Krall, Max ; Wu, Di...
qt9j97k3nb. , 2017

Link: https://escholarship.org..

10

A recurrent, non-penetrant sequence variant, p.Arg266Cys in..:

Tanya Bardakjian ; Max Krall ; Di Wu...
http://www.sciencedirect.com/science/article/pii/S2451993616300809. , 2017

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