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Journal of Medical Genetics|January 14, 2021
Deep exploration of a <i>CDKN1C</i> mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delaySiren Berland, Bjørn Ivar Haukanes, Petur Benedikt Juliusson, et al.
Clinical Genetics|January 17, 2023
Possible association of trichorhinophalangeal syndrome I and intracranial subependymomaDonald A Ross, Siren Berland, Christian A Helland, et al.
The Journal of Clinical Endocrinology and Metabolism|July 4, 2024
Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort StudyChristoffer Drabløs Velde, Janne Molnes, Siren Berland, et al.
Cold Spring Harbor Molecular Case Studies|December 10, 2021
The blended phenotype of a germline <i>RIT1</i> and a mosaic <i>PIK3CA</i> variantSiren Berland, Jørgen Jareld, Nicholas Hickson, et al.
Ophthalmic Genetics|September 3, 2015
Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive BestrophinopathyRagnhild Wivestad Jansson, Siren Berland, Cecilie Bredrup, et al.
Pediatrics|May 29, 2024
Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental DelayAllan M Lund, Siren Berland, Trine Tangeraas, et al.
Human Reproduction (Oxford, England)|November 13, 2023
Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testingElinor Chelsom Vogt, Eirik Bratland, Siren Berland, et al.
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke|April 24, 2020
Birt-Hogg-Dubé syndromeIngvil Berger, Siren Berland, Jezabel Rivero Rodriguez, et al.
Cold Spring Harbor Molecular Case Studies|February 14, 2018
A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbanceSiren Berland, Trine L Toft-Bertelsen, Ingvild Aukrust, et al.
European Journal of Human Genetics : EJHG|April 11, 2013
Evidence for anticipation in Beckwith-Wiedemann syndromeSiren Berland, Mia Appelbäck, Ove Bruland, et al.
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