E-LIB Suche - Ergebnisse für: Kenny, Janna

1

The Common PKD1 p.(Ile3167Phe) Variant Is Hypomorphic and A..:

Durkie, Miranda ; Watson, Christopher M. ; Winship, Peter...
Human Mutation. 2023 (2023) - p. 1-8 , 2023

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

2

Fontaine progeroid syndrome—A case report:

Lally, Sinéad ; Walsh, Nicola ; Kenny, Janna...
Clinical Case Reports. 10 (2022) 9 - p. , 2022

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

3

eP360: Exome analysis of prenatal and postnatal cases refer..:

Haworth, Andrea ; Homfray, Tessa ; Drury, Suzanne...
Genetics in Medicine. 24 (2022) 3 - p. S226 , 2022

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

4

Age at onset in genetic prion disease and the design of pre..:

Minikel, Eric Vallabh ; Vallabh, Sonia M. ; Orseth, Margaret C....
Neurology. 93 (2019) 2 - p. , 2019

Link: https://doi.org/10.1212/..

5

Age of onset in genetic prion disease and the design of pre..:

Minikel, Eric ; Vallabh, Sonia ; Orseth, Margaret...
Neurology. 92 (2019) 15_supplement - p. , 2019

Link: https://doi.org/10.1212/..

6

Clinical phenotype and genetic associations in autosomal do..:

Ryan, Natalie S ; Nicholas, Jennifer M ; Weston, Philip S J...
The Lancet Neurology. 15 (2016) 13 - p. 1326-1335 , 2016

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

7

R47H TREM2 variant increases risk of typical early‐onset Al..:

Slattery, Catherine F. ; Beck, Jonathan A. ; Harper, Lorna...
Alzheimer's & Dementia. 10 (2014) 6 - p. 602 , 2014

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

8

P1–182: Validation of next‐generation sequencing technologi..:

Beck, Jon ; Adamson, Gary ; Campbell, Tracy...
Alzheimer's & Dementia. 9 (2013) 4S_Part_5 - p. , 2013

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

9

Medical utilization by immunodeficient, hemophiliac, and HI..:

Bergman, Jonathan ; Kinsella, Eimear ; Kenny, Janna..
Pediatric Blood & Cancer. 45 (2005) 6 - p. 826-830 , 2005

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

10

Beyond genetics: Deciphering the impact of missense variant..:

Caño-Ochoa, Francisco del ; Ng, Bobby G ; Rubio-Del-Campo, Antonio...
#PLACEHOLDER_PARENT_METADATA_VALUE#. , 2023

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

11

Age at onset in genetic prion disease and the design of pre..:

Minikel, Eric Vallabh ; Vallabh, Sonia M ; Orseth, Margaret C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6656649/. , 2019

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

12

Clinical phenotype and genetic associations in autosomal do..:

Ryan, Natalie S ; Nicholas, Jennifer M ; Weston, Philip SJ...
https://researchonline.lshtm.ac.uk/id/eprint/3029271/1/Clinical%20phenotype%20and%20genetic%20associations_GOLD%20VoR.pdf. , 2016

Link: https://researchonline.l..

13

Fontaine progeroid syndrome—A case report:

Sinéad Lally ; Nicola Walsh ; Janna Kenny...
https://doi.org/10.1002/ccr3.6291. , 2022

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

14

Direct Detection of Akhiezer Damping in a Silicon MEMS Reso..:

Rodriguez, Janna ; Chandorkar, Saurabh A. ; Watson, Christopher A....
Scientific Reports. 9 (2019) 1 - p. , 2019

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

15

Hedgehog-interacting protein acts in the habenula to regula..:

Caligiuri, Stephanie P. B. ; Howe, William M. ; Wills, Lauren...
Proceedings of the National Academy of Sciences. 119 (2022) 46 - p. , 2022

Link: https://doi.org/10.1073/..