Tümer Z

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Delgado-Vega AM, Cederroth H, Taylan F, ..., Cederroth M, Nordgren A

Nat. Genet. 56 (11) 2287-2294 [2024-11-00; online 2024-10-22]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Gothenburg [Service] Clinical Genomics Stockholm [Service] Clinical Genomics Uppsala [Collaborative] NGI Long read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]

Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.

Tvergaard NK, Tkemaladze T, Stödberg T, ..., Tümer Z, Bayat A

Clin. Genet. 106 (4) 427-436 [2024-10-00; online 2024-06-18]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]