E-LIB Suche - Ergebnisse für: Egense, Alena

1

The phenotypic and genotypic spectrum of individuals with m..:

Furia, Francesca ; Levy, Amanda M. ; Theunis, Miel...
Clinical Genetics. , 2024

Link: https://doi.org/10.1111/..

2

P327: Congenital disorder of glycosylation type IIa with a ..:

Egense, Alena ; Do, Timothy ; Herman, Kristin..
Genetics in Medicine Open. 2 (2024) - p. 101221 , 2024

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

3

A novel DPH5-related diphthamide-deficiency syndrome causin..:

Shankar, Suma P. ; Grimsrud, Kristin ; Lanoue, Louise...
Genetics in Medicine. 24 (2022) 7 - p. 1567-1582 , 2022

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

4

Atypical presentation of Angelman syndrome with intact expr..:

Punatar, Ruchi ; Egense, Alena ; Mao, Rong...
Molecular Genetics & Genomic Medicine. 10 (2022) 10 - p. , 2022

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

5

eP103: Speech development gene pathways: Would genome seque..:

Cole, Stacey ; Egense, Alena ; Suzuki, Ayaka...
Genetics in Medicine. 24 (2022) 3 - p. S66-S67 , 2022

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

6

A novel DPH5-related diphthamide-deficiency syndrome causin..:

Shankar, Suma P. ; Grimsrud, Kristin ; Lanoue, Louise...
Genetics in Medicine. 24 (2022) 10 - p. 2207 , 2022

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

7

Retinal dystrophies: A look beyond the eyes:

Tang, Vincent Duong ; Egense, Alena ; Yiu, Glenn...
American Journal of Ophthalmology Case Reports. 27 (2022) - p. 101613 , 2022

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

8

Case report of oldest described adult with SETD2 variant: a..:

Egense, Alena ; Rauen, Katherine
Molecular Genetics and Metabolism. 132 (2021) - p. S88 , 2021

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

9

Familial cardio‐facio‐cutaneous syndrome: Vertical transmis..:

Rauen, Katherine A. ; Maeda, Yoshiko ; Egense, Alena.
American Journal of Medical Genetics Part A. 185 (2020) 2 - p. 469-475 , 2020

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

10

Genetic Counselors' Experience with and Opinions on the Man..:

Leppert, Kristen ; Bisordi, Katharine ; Nieto, Jessica...
Journal of Genetic Counseling. 27 (2018) 6 - p. 1328-1340 , 2018

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

11

Tubulointerstitial nephritis and uveitis (TINU) with granul..:

Dawson, Valerie J. ; Dao, David ; Leu, Melanie...
Journal of American Association for Pediatric Ophthalmology and Strabismus. 22 (2018) 4 - p. 329-331.e1 , 2018

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

12

Cornelia de Lange syndrome and molecular implications of th..:

Kline, Antonie D. ; Krantz, Ian D. ; Deardorff, Matthew A....
American Journal of Medical Genetics Part A. 173 (2017) 5 - p. 1172-1185 , 2017

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

13

Clinical, developmental and molecular update on Cornelia de..:

Kline, Antonie D. ; Calof, Anne L. ; Lander, Arthur D....
American Journal of Medical Genetics Part A. 167 (2015) 6 - p. 1179-1192 , 2015

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

14

Further Characterization of SMC1A Loss of Function Epilepsy..:

Barañano, Kristin W. ; Kimball, Amy ; Fong, Susan L....
Journal of Child Neurology. 37 (2022) 5 - p. 390-396 , 2022

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

15

A novel DPH5-related diphthamide-deficiency syndrome causin..:

Shankar, Suma P ; Grimsrud, Kristin ; Lanoue, Louise...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9598985/. , 2022

Link: http://www.ncbi.nlm.nih...