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Poke, S.
30  results:
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1

MSL2 variants lead to a neurodevelopmental syndrome with la..:

Karayol, Remzi ; Borroto, Maria Carla ; Haghshenas, Sadegheh...
The American Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1016/..
 
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2

Heterozygous ANKRD17 loss-of-function variants cause a synd..:

Chopra, Maya ; McEntagart, Meriel ; Clayton-Smith, Jill...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8206162/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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3

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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4

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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5

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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6

Expanding the phenotypic spectrum associated with DPF2: A n..:

Knapp, Karen M ; Poke, Gemma ; Jenkins, Danielle..
American Journal of Medical Genetics Part A.  179 (2019)  8 - p. 1637-1641 , 2019
Link: https://doi.org/10.1002/..
 
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7

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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8

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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9

Neurologie 

Springer-Lehrbuch
Hacke, Werner ; Poeck, Klaus ; Wick, Wolfgang... - 14., überarbeitete Auflage . , 2016
Copies: Zentrale;
 
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10

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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11

Phenotype and genotype in 103 patients with tricho-rhino-ph..:

Maas, Saskia M. ; Shaw, Adam C. ; Bikker, Hennie...
European Journal of Medical Genetics.  58 (2015)  5 - p. 279-292 , 2015
Link: https://doi.org/10.1016/..
 
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12

Phenotype and genotype in 103 patients with tricho-rhino-ph..:

Maas, Saskia M ; Shaw, C. A ; Bikker, Hennie...
European Journal Of Medical Genetics. -58 : 5 (2015), p. 279-292. -Eur. J. Med. Genet. - 1769-7212.  , 2015
Link: http://hdl.handle.net/24..
 
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13

Involvement of the SWI/SNF Complex in Familial Meningiomato..:

Smith, Miriam J. ; Sullivan, James O' ; Bhaskar, Sanjeev S....
Cancer Genetics.  207 (2014)  9 - p. 445 , 2014
Link: https://doi.org/10.1016/..
 
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14

Study on Carrageenan Content and Growth of Seaweed, Kappaph..:

Poke, A. M. (Aounorofiq) ; Gerung, G. S. (Grevo) ; Montolalu, R. I. (Roike)
https://www.neliti.com/publications/371891/study-on-carrageenan-content-and-growth-of-seaweed-kappaphycus-alvarezii-infecte.  , 2014
Link: https://www.neliti.com/p..
 
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15

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

Ansari, Morad ; Poke, Gemma ; Ferry, Quentin...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC.  , 2014
Link: http://www.ncbi.nlm.nih...
 
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