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Chijiwa, Chieko
27  results:
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1

Clinical and Molecular Characterization of a Novel Homozygo..:

Ha, Zong Yi ; Chijiwa, Chieko ; Lewis, Suzanne
Genes.  15 (2024)  4 - p. 461 , 2024
Link: https://doi.org/10.3390/..
 
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2

Genome-wide sequencing and the clinical diagnosis of geneti..:

Elliott, Alison M. ; Adam, Shelin ; du Souich, Christèle...
Human Genetics and Genomics Advances.  3 (2022)  3 - p. 100108 , 2022
Link: https://doi.org/10.1016/..
 
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3

Contribution of Multiple Inherited Variants to Autism Spect..:

Dhaliwal, Jasleen ; Qiao, Ying ; Calli, Kristina...
Genes.  12 (2021)  7 - p. 1053 , 2021
Link: https://doi.org/10.3390/..
 
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4

Renpenning syndrome in a female:

Cho, Raymond Y. ; Peñaherrera, Maria S. ; Du Souich, Christele...
American Journal of Medical Genetics Part A.  182 (2019)  3 - p. 498-503 , 2019
Link: https://doi.org/10.1002/..
 
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5

Aberrant Function of the C-Terminal Tail of HIST1H1E Accele..:

Flex, Elisabetta ; Martinelli, Simone ; Van Dijck, Anke...
The American Journal of Human Genetics.  105 (2019)  3 - p. 493-508 , 2019
Link: https://doi.org/10.1016/..
 
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6

Weaver Syndrome‐Associated EZH2 Protein Variants Show Impai..:

Cohen, Ana S.A. ; Yap, Damian B. ; Lewis, M.E. Suzanne...
Human Mutation.  37 (2016)  3 - p. 301-307 , 2016
Link: https://doi.org/10.1002/..
 
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7

Exome sequencing identifies pathogenic variants of VPS13B i..:

Dastan, Jila ; Chijiwa, Chieko ; Tang, Flamingo...
BMC Medical Genetics.  17 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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8

Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutat..:

Ngai, Ying Fai ; Chijiwa, Chieko ; Mercimek‐Mahmutoglu, Saadet...
American Journal of Medical Genetics Part A.  152A (2010)  11 - p. 2784-2790 , 2010
Link: https://doi.org/10.1002/..
 
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9

Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutat..:

Ngai, Ying Fai ; Chijiwa, Chieko ; Mercimek-Mahmutoglu, Saadet...
Canadian Journal of Diabetes.  32 (2008)  4 - p. 396 , 2008
Link: https://doi.org/10.1016/..
 
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10

Elucidation of a cryptic interstitial 7q31.3 deletion in a ..:

Tyson, Christine ; McGillivray, Barbara ; Chijiwa, Chieko.
American Journal of Medical Genetics Part A.  129A (2004)  3 - p. 254-260 , 2004
Link: https://doi.org/10.1002/..
 
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11

Genome-wide sequencing and the clinical diagnosis of geneti..:

Elliott, Alison M ; Adam, Shelin ; du Souich, Christèle...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9117924/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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12

Contribution of Multiple Inherited Variants to Autism Spect..:

Dhaliwal, Jasleen ; Qiao, Ying ; Calli, Kristina...
Genes 12 (7): 1053 (2021).  , 2021
Link: http://hdl.handle.net/18..
 
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13

Contribution of Multiple Inherited Variants to Autism Spect..:

Dhaliwal, Jasleen ; Qiao, Ying ; Calli, Kristina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303619/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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14

Germline AGO2 mutations impair RNA interference and human n..:

Lessel, Davor ; Zeitler, Daniela M ; Reijnders, Margot R F...
https://research.rug.nl/en/publications/83f39819-c603-41b1-aafb-983f211f5c5e.  , 2020
Link: https://hdl.handle.net/1..
 
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15

Germline AGO2 mutations impair RNA interference and human n..:

Lessel, Davor ; Zeitler, Daniela M ; Reijnders, Margot R. F...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7670403/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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