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Characterizing healthcare resource utilization in two rare diseases (Kleefstra syndrome and SLC6A1 epileptic encephalopathy) using multimodal real-world data by Caitlin A. Nichols, Ella Nysetvold, Mike Jackson, Ainslie Tisdale, Christine M. Cutillo, Shannon Rego, Ashley N. Cogell, Nelson D. Pace, Kristina Cotter
Published 2025-07-01Get full text
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Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. by Martina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, Harold E Cross, Brian Mark, Gaurav V Harlalka, Michael A Patton, Miho Ishida, Elijah R Behr, Sanjay Sharma, Kenneth Zahka, Eissa Faqeih, Brian Blakley, Mike Jackson, Melissa Lees, Vernon Dolinsky, Leroy Cross, Philip Stanier, Claire Salter, Emma L Baple, Fowzan S Alkuraya, Andrew H Crosby, Barbara Triggs-Raine, Barry A Chioza
Published 2017-01-01Get full text
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