P233: PKD1 hypomorphic variant in a girl with tuberous sclerosis complex and polycystic kidneys by Jennifer Glass, Jie Liu, Subba Indugula, Darcy Krueger, David Ritter

Get full text

Multivariate data analysis identifies natural clusters of Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND) by Petrus J. de Vries, Loren Leclezio, Sugnet Gardner-Lubbe, Darcy Krueger, Mustafa Sahin, Steven Sparagana, Liesbeth De Waele, Anna Jansen

Get full text

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. by Magdalena E Tyburczy, Kira A Dies, Jennifer Glass, Susana Camposano, Yvonne Chekaluk, Aaron R Thorner, Ling Lin, Darcy Krueger, David N Franz, Elizabeth A Thiele, Mustafa Sahin, David J Kwiatkowski

Get full text

Similar trends in serum VEGF-D levels and kidney angiomyolipoma responses with longer duration sirolimus treatment in adults with tuberous sclerosis. by Izabela A Malinowska, Nancy Lee, Vidhya Kumar, Elizabeth A Thiele, David Neal Franz, Stephen Ashwal, Arthur Sagalowsky, Francis J Dimario, Drew Cutler, Darcy Krueger, Susana Camposano, Jan Paolini, Sandra L Dabora

Get full text

Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex. by Iván Sánchez Fernández, Edward Yang, Paola Calvachi, Marta Amengual-Gual, Joyce Y Wu, Darcy Krueger, Hope Northrup, Martina E Bebin, Mustafa Sahin, Kun-Hsing Yu, Jurriaan M Peters, TACERN Study Group

Get full text