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Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing by Rutaba Gul, Rutaba Gul, Sabika Firasat, Mikkel Schubert, Asmat Ullah, Elionora Peña, Anne C. B. Thuesen, Mulazim Hussain, Frederik F. Staeger, Anette P. Gjesing, Anders Albrechtsen, Torben Hansen
Published 2023-04-01
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Rationale and design of a prospective, clinical study of kidney biopsies in people with type 2 diabetes and severely increased albuminuria (the PRIMETIME 2 study) by Torben Hansen, Rikke Borg, Ditte Hansen, Peter Rossing, Marie Møller, Frederik Persson, Iain Bressendorff, Lisbeth N Fink, Eva Gravesen, Karina Haar Jensen, Dorrit Krustrup, Frederikke E Sembach, Anne C B Thuesen
Published 2023-06-01
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Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing by Rutaba Gul, Rutaba Gul, Sabika Firasat, Mikkel Schubert, Asmat Ullah, Elionora Peña, Anne C. B. Thuesen, Annete P. Gjesing, Mulazim Hussain, Muhammad Tufail, Muhammad Saqib, Muhammad Saqib, Kiran Afshan, Torben Hansen
Published 2023-09-01
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