Kvarnung M

Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.

Ben-Shabat I, Kvarnung M, Sperker W, ..., Engvall M, Paucar M

Neurol Genet 9 (6) e200100 [2023-12-00; online 2023-11-28]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

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

Kvarnung M, Taylan F, Nilsson D, ..., Nordgren A, Lundberg ES

Clin. Genet. 94 (6) 528-537 [2018-12-00; online 2018-10-15]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]