E-LIB Suche - Ergebnisse für: Casey, Jillian P.

1

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

2

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/..

3

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

A novel approach of homozygous haplotype sharing identifies..:

Casey, Jillian P. ; Magalhaes, Tiago ; Conroy, Judith M....
Human Genetics. 131 (2011) 4 - p. 565-579 , 2011

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

12

The clinical, biochemical and genetic features associated w..:

Ng, Yi Shiau ; Alston, Charlotte L ; Diodato, Daria...
0022-2593. , 2016

Link: http://hdl.handle.net/10..

13

NAA10 mutation causing a novel intellectual disability synd..:

Casey, Jillian P ; Støve, Svein Isungset ; McGorrian, Catherine...
urn:issn:2045-2322. , 2016

Link: https://hdl.handle.net/1..

14

The clinical, biochemical and genetic features associated w..:

Ng, Yi Shiau ; Alston, Charlotte L ; Diodato, Daria...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5264221/. , 2016

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

15

Unexpected genetic heterogeneity for primary ciliary dyskin..:

Casey, Jillian P ; McGettigan, Paul A ; Healy, Fiona...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297907/. , 2015

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