I agree that this site is using cookies. You can find further informations here.
X
Donnelly, Deirdre
173  results:
Search for persons X
?
1

Germline pathogenic variants in HNRNPU are associated with ..:

Lee, Sunwoo ; Ochoa, Eguzkine ; Badura-Stronka, Magdalena...
European Journal of Human Genetics.  31 (2023)  9 - p. 1040-1047 , 2023
Link: https://doi.org/10.1038/..
 
?
2

Clinical, genetic, epidemiologic, evolutionary, and functio..:

Jackson, Adam ; Lin, Sheng-Jia ; Jones, Elizabeth A....
Human Genetics and Genomics Advances.  4 (2023)  2 - p. 100186 , 2023
Link: https://doi.org/10.1016/..
 
?
3

The contribution of X-linked coding variation to severe dev..:

Martin, Hilary C. ; Gardner, Eugene J. ; Samocha, Kaitlin E....
Nature Communications.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
?
4

Evidence for 28 genetic disorders discovered by combining h..:

Kaplanis, Joanna ; Samocha, Kaitlin E. ; Wiel, Laurens...
Nature.  586 (2020)  7831 - p. 757-762 , 2020
Link: https://doi.org/10.1038/..
 
?
5

Towards establishing consistency in triage in a tertiary sp..:

McVeigh, Terri Patricia ; Donnelly, Deirdre ; Al Shehhi, Maryam...
European Journal of Human Genetics.  27 (2019)  4 - p. 547-555 , 2019
Link: https://doi.org/10.1038/..
 
?
6

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Dis..:

Taylor, Rachel L. ; Handley, Mark T. ; Waller, Sarah...
Investigative Opthalmology & Visual Science.  58 (2017)  1 - p. 594 , 2017
Link: https://doi.org/10.1167/..
 
?
7

Ballykissangel: S2:

Donnelly, Deirdre ; Kirwan, Dervla ; McCafferty, Frankie... , 1997
Link: https://unibremen.kanopy..
 
?
8

Ballykissangel:

Donnelly, Deirdre ; Kirwan, Dervla ; McCafferty, Frankie.. , 1996
Link: https://unibremen.kanopy..
 
?
9

Ballykissangel: S1:

Donnelly, Deirdre ; Kirwan, Dervla ; McCafferty, Frankie.. , 1996
Link: https://unibremen.kanopy..
 
?
10

NovelDNM1Lvariants impair mitochondrial dynamics through di..:

Nolden, Kelsey A ; Egner, John M ; Collier, Jack J...
Life Science Alliance.  5 (2022)  12 - p. e202101284 , 2022
Link: https://doi.org/10.26508..
 
?
11

QRICH1 mutations cause a chondrodysplasia with developmenta..:

Lui, Julian C. ; Jee, Youn Hee ; Lee, Audrey...
Clinical Genetics.  95 (2018)  1 - p. 160-164 , 2018
Link: https://doi.org/10.1111/..
 
?
12

De novo mutations in HNRNPU result in a neurodevelopmental ..:

Yates, T. Michael ; Vasudevan, Pradeep C. ; Chandler, Kate E....
American Journal of Medical Genetics Part A.  173 (2017)  11 - p. 3003-3012 , 2017
Link: https://doi.org/10.1002/..
 
?
13

Incidence of Fragile X syndrome in Ireland:

O'Byrne, James J. ; Sweeney, Michael ; Donnelly, Deirdre E....
American Journal of Medical Genetics Part A.  173 (2017)  3 - p. 678-683 , 2017
Link: https://doi.org/10.1002/..
 
?
14

The prevalence of pica in tuberous sclerosis complex:

Morrison, Patrick J ; O'Neill, Tara ; Hardy, Rachel..
SpringerPlus.  4 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
?
15

Epidemiology, Clinical Features, and Genetics of Multiple E..:

Znaczko, Anna ; Donnelly, Deirdre E. ; Morrison, Patrick J.
The Oncologist.  19 (2014)  12 - p. 1284-1286 , 2014
Link: https://doi.org/10.1634/..
 
1-15