Search

Author/Creator Castaldi, Christopher

1. D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia. Issue 1 (8th October 2021)

Authors:
Werner, Kelly M.; Cox, Allison J.; Qian, Emily; Jain, Preti; Ji, Weizhen; Tikhonova, Irina; Castaldi, Christopher; Bilguvar, Kaya; Knight, James; Ferdinandusse, Sacha; Fawaz, Rima; Jiang, Yong‐Hui; Gallagher, Patrick G.; Bizzarro, Matthew; Gruen, Jeffrey R.; Bale, Allen; Zhang, Hui
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 1(2022)
Page Start:
357
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Integrative Genomics Implicates Genetic Disruption of Prenatal Neurogenesis in Congenital Hydrocephalus. (16th November 2020)

Authors:
Panchagnula, Shreyas; Jin, Sheng C; Dong, Weilai; Kundishora, Adam; Moreno-De-Luca, Andres; Furey, Charuta G; Allocco, August A; Walker, Rebecca; Nelson-Williams, Carol; Smith, Hannah; Dunbar, Ashley; Conine, Sierra B; Lu, Qiongshi; Zen, Xue; Sierant, Michael; Knight, James; Sullivan, William; Ph...
Journal:
Neurosurgery
Issue:
Volume 67(2010)Supplement 1
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. Issue 3 (22nd September 2017)

Authors:
Yoo, Yongjin; Jung, Jane; Lee, Yoo‐Na; Lee, Youngha; Cho, Hyosuk; Na, Eunjung; Hong, JeaYeok; Kim, Eunjin; Lee, Jin Sook; Lee, Je Sang; Hong, Chansik; Park, Sang‐Yoon; Wie, Jinhong; Miller, Kathryn; Shur, Natasha; Clow, Cheryl; Ebel, Roseànne S.; DeBrosse, Suzanne D.; Henderson, Lindsay B.; Willa...
Journal:
Annals of neurology
Issue:
Volume 82:Issue 3(2017)
Page Start:
466
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗