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Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|May 22, 2015
Isolated Horner Syndrome From an Elongated Styloid Process (Eagle Syndrome)Caitlin A Chang, Tony Lin, Kevin Fung, et al.
JIMD Reports|September 10, 2019
Transiently elevated plasma methionine, <i>S</i>-adenosylmethionine and <i>S</i>-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylationCaitlin A Chang, Xing-Chang Wei, Steven R Martin, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|February 4, 2021
Bilateral Nephroblastic Tumors and a Complex Renal Vascular Anomaly in a Patient With a Mosaic RASopathy: Novel Histopathologic Features and Molecular InsightsJonathan C Slack, Marie-Anne Bründler, Caitlin A Chang, et al.
American Journal of Medical Genetics. Part A|October 7, 2020
Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two familiesCaitlin A Chang, Nataliya Di Donato, Karl Hackmann, et al.
Clinical & Experimental Ophthalmology|March 1, 2019
Mechanical stretch upregulates connexin43 in human trabecular meshwork cellsNikoleta Tellios, Mary Feng, Nancy Chen, et al.
Clinical Kidney Journal|August 5, 2024
Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delayWillem Bosman, Kameryn M Butler, Caitlin A Chang, et al.
American Journal of Medical Genetics. Part A|May 31, 2021
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variantsCaitlin A Chang, Renee Perrier, Kyle C Kurek, et al.
Human Molecular Genetics|March 21, 2020
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndromeReham Alharatani, Athina Ververi, Ana Beleza-Meireles, et al.
American Journal of Medical Genetics. Part A|March 10, 2022
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discoveryMaria I Kontaridis, Amy E Roberts, Lisa Schill, et al.
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