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Author/Creator Esteves, Cecilia

1. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. (August 2018)

Authors:
Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U...
Journal:
Neurology
Issue:
Volume 4:Number 4(2018)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency. Issue 1 (15th December 2017)

Authors:
Abhyankar, Avinash; Lamendola‐Essel, Michelle; Brennan, Kelly; Giordano, Jessica L.; Esteves, Cecilia; Felice, Vanessa; Wapner, Ronald; Jobanputra, Vaidehi
Journal:
Clinical case reports
Issue:
Volume 6:Issue 1(2018)
Page Start:
200
Record Type:
Journal Article
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3. Finding commonalities in rare diseases through the undiagnosed diseases network. (3rd May 2021)

Authors:
Yates, Josephine; Gutiérrez-Sacristán, Alba; Jouhet, Vianney; LeBlanc, Kimberly; Esteves, Cecilia; DeSain, Thomas N; Benik, Nick; Stedman, Jason; Palmer, Nathan; Mellon, Guillaume; Kohane, Isaac; Avillach, Paul
Journal:
Journal of the American Medical Informatics Association
Issue:
Volume 28:Number 8(2021)
Page Start:
1694
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗