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The Journal of Clinical Investigation|December 30, 2009
The evolutionarily conserved TSC/Rheb pathway activates Notch in tuberous sclerosis complex and Drosophila external sensory organ developmentMagdalena Karbowniczek, Diana Zitserman, Damir Khabibullin, et al.
The Laryngoscope|June 10, 2021
Audiologic Phenotype and Progression in Pediatric STRC-Related Autosomal Recessive Hearing LossAndrea Simi, Julia Perry, Emma Schindler, et al.
The Journal of Pediatrics|April 17, 2022
The Genomics of Congenital Diaphragmatic Hernia: A 10-Year Retrospective ReviewK Taylor Wild, Erica Schindewolf, Holly L Hedrick, et al.
The Journal of Pediatrics|July 20, 2023
Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic YieldNobuko Yamamoto, Jorune Balciuniene, Tiffiney Hartman, et al.
JAMA Pediatrics|September 27, 2021
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial, Ian D Krantz, Livija Medne, et al.
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