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Poke, G.
31  results:
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1

REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS:

Rodrigues, M. ; Roxburgh, R. ; O'Grady, G...
Neuromuscular Disorders.  28 (2018)  - p. S118 , 2018
Link: https://doi.org/10.1016/..
 
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2

STAC3 p.Trp284Ser associated with congenital myopathy with ..:

Zaharieva, I. ; Sarkozy, A. ; Manzur, A....
Neuromuscular Disorders.  27 (2017)  - p. S39 , 2017
Link: https://doi.org/10.1016/..
 
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3

Recurrent de novo BICD2 mutation associated with severe art..:

Ravenscroft, G. ; Di Donato, N. ; Davis, M....
Neuromuscular Disorders.  26 (2016)  - p. S106-S107 , 2016
Link: https://doi.org/10.1016/..
 
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4

Unmet needs of people living with myotonic dystrophy: Data ..:

Theadom, A. ; Mitchell, K. ; Roxburgh, R....
Neuromuscular Disorders.  26 (2016)  - p. S195 , 2016
Link: https://doi.org/10.1016/..
 
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5

Prevalence of genetic muscle disorders (MD-Prev): A nationa..:

Theadom, A. ; Roxburgh, R. ; Rodrigues, M....
Neuromuscular Disorders.  26 (2016)  - p. S206 , 2016
Link: https://doi.org/10.1016/..
 
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6

Molecular diagnosis of genetic muscle disorders in New Zeal..:

Rodrigues, M. ; Poke, G. ; Roxburgh, R....
Neuromuscular Disorders.  26 (2016)  - p. S207 , 2016
Link: https://doi.org/10.1016/..
 
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7

Family communication following a diagnosis of myotonic dyst..:

Taylor S ; Rodrigues M ; Poke G..
Journal of genetic counseling.  , 2020
Link: http://hdl.handle.net/10..
 
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8

STAC3 variants cause a congenital myopathy with distinctive..:

Zaharieva, IT ; Sarkozy, A ; Munot, P...
doi:10.1002/humu.23635.  , 2020
Link: https://doi.org/10.1002/..
 
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9

Expanding the genotypic and phenotypic spectrum of severe s..:

Abdelfattah, F ; Kariminejad, A ; Kahlert, A...
issn:1059-7794.  , 2020
Link: http://hdl.handle.net/11..
 
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10

Generation of the induced human pluripotent stem cell lines..:

Malerba N ; Benzoni P ; Squeo G. M...
info:eu-repo/semantics/altIdentifier/pmid/31479876.  , 2019
Link: http://hdl.handle.net/24..
 
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11

STAC3 variants cause a congenital myopathy with distinctive..:

Zaharieva, IT ; Sarkozy, A ; Munot, P...
https://discovery.ucl.ac.uk/id/eprint/10059125/1/Muntoni_STAC3_revised_no_TrChanges.pdf.  , 2018
Link: https://discovery.ucl.ac..
 
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12

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) ..:

Ansari, M ; Poke, G ; Ferry, Q...
Journal of Medical Genetics, 2014; 51(10):659-668.  , 2014
Link: http://hdl.handle.net/24..
 
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13

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) ..:

Ansari, M ; Poke, G ; Ferry, Q...
https://discovery.ucl.ac.uk/id/eprint/1443027/1/Genetic%20heterogeneity%20in%20Cornelia%20de%20Lange%20syndrome%20%28CdLS%29%20and%20CdLS-like%20phenotypes%20with%20observed%20and%20predicted%20levels%20of%20mosaicism.pdf.  , 2014
Link: https://discovery.ucl.ac..
 
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14

Segmental Maternal UPD6 with Prenatal Growth Restriction:

Poke, G ; Doody, M ; Prado, J.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3569104.  , 2013
Link: http://www.ncbi.nlm.nih...
 
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15

Clustered de novo start-loss variants in GLUL result in a d..:

Jones, Amy G. ; Aquilino, Matilde ; Tinker, Rory J....
The American Journal of Human Genetics.  111 (2024)  4 - p. 729-741 , 2024
Link: https://doi.org/10.1016/..
 
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