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Author/Creator Chijiwa, Chieko

2. MG-115 Compound heterozygous SCN4A mutation underlies severe congenital hypotonia and biophysical alteration in the encoded voltage-gated NAV1.4 sodium channel. (4th December 2015)

Authors:
van Karnebeek, Clara DM; Ye, X Cynthia; Abdelsayed, Mena; Selby, Katherine; Zhang, Linhua; Chijiwa, Chieko; Hendson, Glenda; Sayson, Bryan; Gill, Harinder; Balicki, Martha; Eydoux, Patrice; Ross, Colin J; Vallance, Hilary; Wasserman, Wyeth; Ruben, Peter; Lewis, Suzanne ME
Journal:
Journal of medical genetics
Issue:
Volume 52(2015)Supplement 1
Page Start:
A3
Record Type:
Journal Article
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4. Pathologic Skull Fracture in a Near-Term Neonate with Arthrochalasia Type Ehlers-Danlos Syndrome: A Case Report. (7th February 2022)

Authors:
Liu, Yi Ariel; Chijiwa, Chieko; Dunham, Christopher P.; Jamieson, Douglas H.; Solimano, Alfonso; Schalkwyk, Julianne van; Patel, Millan S.; Lee, Anna F.
Journal:
Fetal and pediatric pathology
Issue:
Volume 41:Number 1(2022)
Page Start:
149
Record Type:
Journal Article
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5. Renpenning syndrome in a female. Issue 3 (16th December 2019)

Authors:
Cho, Raymond Y.; Peñaherrera, Maria S.; Du Souich, Christele; Huang, Lijia; Mwenifumbo, Jill; Nelson, Tanya N.; Elliott, Alison M.; Adam, Shelin; Eydoux, Patrice; Yang, Gui X.; Chijiwa, Chieko; Van Allen, Margot I.; Friedman, Jan M.; Robinson, Wendy P.; Lehman, Anna
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 3(2020)
Page Start:
498
Record Type:
Journal Article
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6. Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. Issue 3 (12th January 2016)

Authors:
Cohen, Ana S.A.; Yap, Damian B.; Lewis, M.E. Suzanne; Chijiwa, Chieko; Ramos‐Arroyo, Maria A.; Tkachenko, Natália; Milano, Valentina; Fradin, Mélanie; McKinnon, Margaret L.; Townsend, Katelin N.; Xu, Jieqing; Van Allen, M.I.; Ross, Colin J.D.; Dobyns, William B.; Weaver, David D.; Gibson, William T.
Journal:
Human mutation
Issue:
Volume 37:Issue 3(2016)
Page Start:
301
Record Type:
Journal Article
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