Doriana Misceo
8PUBLICATIONS
29CO-AUTHORS
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Publications (8)
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|Nov 04, 2025
CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6.Doriana Misceo, Thorkild Terkelsen, Sara Margrete Bøen Keim
|Apr 27, 2024
Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome.Doriana Misceo, Petter Strømme, Fatemeh Bitarafan
|Nov 25, 2023
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.Doriana Misceo, Lokuliyanage Dona Samudita Senaratne, Inger-Lise Mero
|Mar 14, 2023
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.Doriana Misceo, Lisa Lirussi, Petter Strømme
|Feb 07, 2023
A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation.Thilini H Gamage, Herwig Grabmayr, Ferdinand Horvath
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Frequent Collaborators
7 joint publications
Eirik Frengen
3 joint publications
Petter Strømme
3 joint publications
Pål Marius Bjørnstad
2 joint publications
Arvind Y M Sundaram
2 joint publications
Asbjørn Holmgren
1 joint publications
Charles P Venditti
1 joint publications
Uffe Birk Jensen
1 joint publications
Herwig Grabmayr
1 joint publications
Ferdinand Horvath
1 joint publications
William Edward Louch
