E-LIB Suche - Ergebnisse für: Jurgens, Julie A

1

Expanding the genetics and phenotypes of ocular congenital ..:

Jurgens, Julie A. ; Barry, Brenda J. ; Chan, Wai-Man...
Genetics in Medicine. , 2024

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

2

A recurrent missense variant in the E3 ubiquitin ligase sub..:

Lecoquierre, François ; Punt, A. Mattijs ; Ebstein, Frédéric...
Genetics in Medicine. 26 (2024) 6 - p. 101119 , 2024

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

3

Novel variants in TUBA1A cause congenital fibrosis of the e..:

Jurgens, Julie A. ; Barry, Brenda J. ; Lemire, Gabrielle...
European Journal of Human Genetics. 29 (2021) 5 - p. 816-826 , 2021

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

4

MAGEL2‐related disorders: A study and case series:

Patak, Jameson ; Gilfert, James ; Byler, Melissa...
Clinical Genetics. 96 (2019) 6 - p. 493-505 , 2019

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

5

Phenotype delineation of ZNF462 related syndrome:

Kruszka, Paul ; Hu, Tommy ; Hong, Sungkook...
American Journal of Medical Genetics Part A. 179 (2019) 10 - p. 2075-2082 , 2019

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

6

Isolation and Culture of Oculomotor, Trochlear, and Spinal ..

JoVE : Neuroscience

Fujiki, Ryosuke ; Lee, Joun Y. ; Jurgens, Julie A... , 2019

Link: https://www.jove.com/t/6..

7

Tandem Requirement for Renal D1R and D5R Functionality:

Rozyyev, Selim ; Crusan, Annabelle P ; Tiu, Andrew C...
The FASEB Journal. 33 (2019) S1 - p. , 2019

Link: https://doi.org/10.1096/..

8

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 N..:

Florwick, Alyssa ; Dharmaraj, Tejas ; Jurgens, Julie..
Frontiers in Genetics. 8 (2017) - p. , 2017

Link: https://doi.org/10.3389/..

9

Assessment of incidental findings in 232 whole-exome sequen..:

Jurgens, Julie ; Ling, Hua ; Hetrick, Kurt...
Genetics in Medicine. 17 (2015) 10 - p. 782-788 , 2015

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

10

Mechanisms of Fetal Programming in Hypertension:

Jones, John Edward ; Jurgens, Julie A. ; Evans, Sarah A....
International Journal of Pediatrics. 2012 (2012) - p. 1-7 , 2012

Link: https://doi.org/10.1155/..

11

Novel role of sorting nexin 5 in renal D1dopamine receptor ..:

Villar, Van Anthony M. ; Armando, Ines ; Sanada, Hironobu...
The FASEB Journal. 27 (2012) 5 - p. 1808-1819 , 2012

Link: https://doi.org/10.1096/..

12

The Dopamine D1‐like Receptors Interact with the α1A Adrene..:

Ennis, Riley Charles ; Villar, Van Anthony M ; Jurgens, Julie A..
The FASEB Journal. 25 (2011) S1 - p. , 2011

Link: https://doi.org/10.1096/..

13

A recurrent missense variant in the E3 ubiquitin ligase sub..:

Lecoquierre, François ; Punt, A. Mattijs ; Ebstein, Frédéric...
https://pure.eur.nl/en/publications/2208dd0b-6ffb-4070-949d-dfd57e2079aa. , 2024

Link: https://pure.eur.nl/en/p..

14

Recessive variants in COL25A1 gene as novel cause of arthro..:

Natera-de Benito, Daniel ; Jurgens, Julie A ; Yeung, Alison...
https://discovery.ucl.ac.uk/id/eprint/10145932/1/Zaharieva_Manuscript%20COL25A1-Natera%20et%20al%20for%20Hum%20Mutation%20Jan%202022.pdf. , 2022

Link: https://discovery.ucl.ac..

15

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 N..:

Alyssa Florwick ; Tejas Dharmaraj ; Julie Jurgens..
http://journal.frontiersin.org/article/10.3389/fgene.2017.00079/full. , 2017

Link: https://doi.org/10.3389/..