Publications by authors named "U Kini"

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Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy.
Erina Sasaki, Philip Millington, Taisiia Sazonova, Lucy Hanington, Andrew Parrish, Usha Kini

Eur J Hum Genet· October 2025

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Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
Camilla Sarli, Liselot van der Laan, Jack Reilly, Slavica Trajkova, Diana Carli, Usha Kini

Am J Med Genet C Semin Med Genet· December 2024

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Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology.
Ainara Salazar-Villacorta, Robert Spaull, Samyami Chowdhury, Bina Mukhtyar, Manali Chitre, Usha Kini

Mov Disord Clin Pract· September 2024

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PSMC5 insufficiency and P320R mutation impair proteasome function.
Zhong-Qiu Yu, Jenny Carmichael, Galen A Collins, Maria Daniela D'Agostino, Mathieu Lessard, Usha Kini

Hum Mol Genet· August 2024

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Optimizing Capacitive Pressure Sensor Geometry: A Design of Experiments Approach with a Computer-Generated Model.
Kiran Keshyagol, Shivashankarayya Hiremath, Vishwanatha H M, Achutha Kini U, Nithesh Naik

Sensors (Basel)· May 2024

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