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Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability

Journal Article published 15 Oct 2018 in Clinical Genetics volume 94 issue 6 on pages 528 to 537

Research funded by Knut och Alice Wallenbergs Stiftelse | Science for Life Laboratory | Stockholms Läns Landsting | Medicinska Forskningsrådet

Authors: Malin Kvarnung, Fulya Taylan, Daniel Nilsson, Britt-Marie Anderlid, Helena Malmgren, Kristina Lagerstedt-Robinson, Eva Holmberg, Magnus Burstedt, Magnus Nordenskjöld, Ann Nordgren, Elisabeth S. Lundberg