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Casey, Jillian
204
results:
Format
Online (204)
Mediatypes
Articles (Online) (46)
Bookchapter (Online) (2)
OpenAccess-fulltext (156)
Sorted by: Relevance
Sorted by: Year
?
1
Intra-familial variability associated with recessive RYR1 m..:
Casey, Jillian
;
Flood, Karen
;
Ennis, Sean
...
Prenatal Diagnosis. 36 (2016) 11 - p. 1020-1026 , 2016
Link:
https://doi.org/10.1002/..
?
2
Atypical Alstrom syndrome with novel ALMS1 mutations preclu..:
Casey, Jillian
;
McGettigan, Paul
;
Brosnahan, Donal
...
European Journal of Medical Genetics. 57 (2014) 2-3 - p. 55-59 , 2014
Link:
https://doi.org/10.1016/..
?
3
A genome‐wide association study of recipient genotype and m..:
O'Brien, Robert P.
;
Phelan, Paul J.
;
Conroy, Judith
...
Clinical Transplantation. 27 (2013) 3 - p. 379-387 , 2013
Link:
https://doi.org/10.1111/..
?
4
Individual common variants exert weak effects on the risk f..:
Anney, Richard
;
Klei, Lambertus
;
Pinto, Dalila
...
Human Molecular Genetics. 21 (2012) 21 - p. 4781-4792 , 2012
Link:
https://doi.org/10.1093/..
?
5
Functional impact of global rare copy number variation in a..:
Pinto, Dalila
;
Pagnamenta, Alistair T.
;
Klei, Lambertus
...
Nature. 466 (2010) 7304 - p. 368-372 , 2010
Link:
https://doi.org/10.1038/..
?
6
A novel gain-of-function mutation in the ITPR1 suppressor d..:
Casey, Jillian P.
;
Hirouchi, Taisei
;
Hisatsune, Chihiro
...
Journal of Neurology. 264 (2017) 7 - p. 1444-1453 , 2017
Link:
https://doi.org/10.1007/..
?
7
Cover Image, Volume 173A, Number 1, January 2017:
O'Byrne, James J.
;
Ryan, Helen
;
Murray, Dylan J.
...
American Journal of Medical Genetics Part A. 173 (2016) 1 - p. , 2016
Link:
https://doi.org/10.1002/..
?
8
Bicoronal and metopic craniosynostosis in association with ..:
O'Byrne, James J.
;
Ryan, Helen
;
Murray, Dylan J.
...
American Journal of Medical Genetics Part A. 173 (2016) 1 - p. 274-279 , 2016
Link:
https://doi.org/10.1002/..
?
9
Recessive NEK9 mutation causes a lethal skeletal dysplasia ..:
Casey, Jillian P.
;
Brennan, Kieran
;
Scheidel, Noemie
...
Human Molecular Genetics. 25 (2016) 9 - p. 1824-1835 , 2016
Link:
https://doi.org/10.1093/..
?
10
Clinical and genetic characterisation of infantile liver fa..:
Casey, Jillian P.
;
Slattery, Suzanne
;
Cotter, Melanie
...
Journal of Inherited Metabolic Disease. 38 (2015) 6 - p. 1085-1092 , 2015
Link:
https://doi.org/10.1007/..
?
11
NAA10 mutation causing a novel intellectual disability synd..:
Casey, Jillian P.
;
Støve, Svein I.
;
McGorrian, Catherine
...
Scientific Reports. 5 (2015) 1 - p. , 2015
Link:
https://doi.org/10.1038/..
?
12
A case report of primary ciliary dyskinesia, laterality def..:
Casey, Jillian P.
;
Goggin, Patricia
;
McDaid, Jennifer
...
BMC Medical Genetics. 16 (2015) 1 - p. , 2015
Link:
https://doi.org/10.1186/..
?
13
The impact of the metabotropic glutamate receptor and other..:
Hadley, Dexter
;
Wu, Zhi-liang
;
Kao, Charlly
...
Nature Communications. 5 (2014) 1 - p. , 2014
Link:
https://doi.org/10.1038/..
?
14
HGDP and HapMap Analysis by Ancestry Mapper Reveals Local a..:
Magalhães, Tiago R.
;
Casey, Jillian P.
;
Conroy, Judith
...
PLoS ONE. 7 (2012) 11 - p. e49438 , 2012
Link:
https://doi.org/10.1371/..
?
15
Identification of a mutation in LARS as a novel cause of in..:
Casey, Jillian P.
;
McGettigan, Paul
;
Lynam-Lennon, Niamh
...
Molecular Genetics and Metabolism. 106 (2012) 3 - p. 351-358 , 2012
Link:
https://doi.org/10.1016/..
1-15