E-LIB Suche - Ergebnisse für: Donnelly, Deirdre E

1

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..

2

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/..

3

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/..

4

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/..

5

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/..

6

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/..

7

A silent nucleotide substitution in the ATP7A gene in a chi..:

Møller, Lisbeth Birk ; Rea, Gillian ; Yasmeen, Saiqa...
Molecular Genetics and Metabolism. 110 (2013) 4 - p. 490-492 , 2013

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

8

Leydig Cell Tumor of the Testis in Tuberous Sclerosis: Lack..:

Malinowska, Izabela A. ; Shepherd, Charles W. ; Donnelly, Deirdre E....
The Oncologist. 17 (2012) 7 - p. 927-929 , 2012

Link: https://doi.org/10.1634/..

9

Constellation of Five Facial Features of Tuberous Sclerosis..:

Hardy, Rachel ; Shepherd, Charles W. ; Donnelly, Deirdre E...
The Oncologist. 17 (2012) 7 - p. 925-926 , 2012

Link: https://doi.org/10.1634/..

10

The clinical spectrum of the m.10191T>C mutation in complex..:

NESBITT, VICTORIA ; MORRISON, PATRICK J ; CRUSHELL, ELLEN...
Developmental Medicine & Child Neurology. 54 (2012) 6 - p. 500-506 , 2012

Link: https://doi.org/10.1111/..

11

Familial Pediatric Endocrine Tumors:

Millar, Sarinda ; Bradley, Lisa ; Donnelly, Deirdre E...
The Oncologist. 16 (2011) 10 - p. 1388-1396 , 2011

Link: https://doi.org/10.1634/..

12

Advances in the Genetics of Familial Renal Cancer:

Morrison, Patrick J. ; Donnelly, Deirdre E. ; Atkinson, A. Brew.
The Oncologist. 15 (2010) 6 - p. 532-538 , 2010

Link: https://doi.org/10.1634/..

13

Novel DNM1L variants impair mitochondrial dynamics through ..:

Nolden, Kelsey A ; Egner, John M ; Collier, Jack J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9354038/. , 2022

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

14

Novel DNM1L variants impair mitochondrial dynamics through ..:

Nolden, Kelsey A ; Egner, John M ; Collier, Jack J...
https://eprints.soton.ac.uk/468355/1/Nolden_Egner_et_al._2022.pdf. , 2022

Link: https://eprints.soton.ac..

15

Novel DNM1L variants impair mitochondrial dynamics through ..:

Nolden, Kelsey A ; Egner, John M ; Collier, Jack J...
https://discovery.ucl.ac.uk/id/eprint/10153626/1/Kurian_Novel%20DNM1L%20variants%20impair%20mitochondrial%20dynamics%20through%20divergent%20mechanisms_VoR.pdf. , 2022

Link: https://discovery.ucl.ac..