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Author/Creator Evans, Sarah H.

1. Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis. (September 2018)

Authors:
Conant, Alexander; Curiel, Julian; Pizzino, Amy; Sabetrasekh, Parisa; Murphy, Jennifer; Bloom, Miriam; Evans, Sarah H.; Helman, Guy; Taft, Ryan J.; Simons, Cas; Whitehead, Matthew T.; Moore, Steven A.; Vanderver, Adeline
Journal:
Journal of child neurology
Issue:
Volume 33:Number 10(2018:Oct.)
Page Start:
642
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Mutations in SZT2 result in early‐onset epileptic encephalopathy and leukoencephalopathy. Issue 6 (25th April 2018)

Authors:
Pizzino, Amy; Whitehead, Matthew; Sabet Rasekh, Parisa; Murphy, Jennifer; Helman, Guy; Bloom, Miriam; Evans, Sarah H.; Murnick, John G.; Conry, Joan; Taft, Ryan J.; Simons, Cas; Vanderver, Adeline; Adang, Laura A.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 6(2018)
Page Start:
1443
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Whole exome sequencing in patients with white matter abnormalities. Issue 6 (9th May 2016)

Authors:
Vanderver, Adeline; Simons, Cas; Helman, Guy; Crawford, Joanna; Wolf, Nicole I.; Bernard, Geneviève; Pizzino, Amy; Schmidt, Johanna L.; Takanohashi, Asako; Miller, David; Khouzam, Amirah; Rajan, Vani; Ramos, Erica; Chowdhury, Shimul; Hambuch, Tina; Ru, Kelin; Baillie, Gregory J.; Grimmond, Sean M...
Journal:
Annals of neurology
Issue:
Volume 79:Issue 6(2016:Jun.)
Page Start:
1031
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Whole exome sequencing in patients with white matter abnormalities. Issue 6 (9th May 2016)

Authors:
Vanderver, Adeline; Simons, Cas; Helman, Guy; Crawford, Joanna; Wolf, Nicole I.; Bernard, Geneviève; Pizzino, Amy; Schmidt, Johanna L.; Takanohashi, Asako; Miller, David; Khouzam, Amirah; Rajan, Vani; Ramos, Erica; Chowdhury, Shimul; Hambuch, Tina; Ru, Kelin; Baillie, Gregory J.; Grimmond, Sean M...
Other Names:
Gropman Andrea L. investigator.; Rosser Tena investigator.; Pearl Phillip L. investigator.; Fung Eva investigator.; Parikh Sumit investigator.; Cohen Bruce H. investigator.; Reggin James D. investigator.; Yalcinkaya Cengiz investigator.; Shafrir Yuval investigator.; MarcDiFazio investigator.; Fre...
Journal:
Annals of neurology
Issue:
Volume 79:Issue 6(2016:Jun.)
Page Start:
1031
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗