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	1.	Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features. [electronic resource] by Upadia, Jariya Gonzales, Patrick R Robin, Nathaniel H Producer: 20190521 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome. [electronic resource] by Upadia, Jariya Gomes, Alicia Weiser, Peter Descartes, Maria Publication details: Journal of pediatric genetics Dec 2018 In: Journal of pediatric genetics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Foramen magnum compression in Coffin-Lowry syndrome: A case report. [electronic resource] by Upadia, Jariya Oakes, Jerry Hamm, Austin Hurst, Anna C E Robin, Nathaniel H Producer: 20171030 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature. [electronic resource] by Upadia, Jariya Philips, Joseph B Robin, Nathaniel H Lose, Edward J Mikhail, Fady M Publication details: Clinical case reports 04 2018 In: Clinical case reports vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Bone manifestations in neuronopathic Gaucher disease while receiving high-dose enzyme replacement therapy. [electronic resource] by Potnis, Kunal C Flueckinger, Lauren B Ha, Christine I Upadia, Jariya Frush, Donald P Kishnani, Priya S Producer: 20190808 In: Molecular genetics and metabolism vol. 126 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C. [electronic resource] by Upadia, Jariya Gonzales, Patrick R Atkinson, T Prescott Schroeder, Harry W Robin, Nathaniel H Rudy, Natasha L Mikhail, Fady M Producer: 20191029 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring. [electronic resource] by Halaby, Carine A Young, Sarah P Austin, Stephanie Stefanescu, Ela Bali, Deeksha Clinton, Lani K Smith, Brian Pendyal, Surekha Upadia, Jariya Schooler, Gary R Mavis, Alisha M Kishnani, Priya S Producer: 20200501 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)