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Donnelly, Deirdre
173
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Online (173)
Mediatypes
Articles (Online) (72)
OpenAccess-fulltext (98)
Video (Online) (3)
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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/..
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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/..
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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/..
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7
Ballykissangel: S2:
Donnelly, Deirdre
;
Kirwan, Dervla
;
McCafferty, Frankie
... , 1997
Link:
https://unibremen.kanopy..
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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..
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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/..
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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/..
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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