Latest publications Department of Rare Disorders and Disabilities

Mårtensson A, Letelier A, Manderstedt E, Glosli H, Ljung R (2024)
Origin of pathogenic variant and mosaicism in families with a sporadic case of haemophilia B
Haemophilia (in press)
DOI 10.1111/hae.15019, PubMed 38632836

Sartorius AM, Rokicki J, Birkeland S, Bettella F, Barth C, de Lange AG, Haram M, Shadrin A, Winterton A, Steen NE, Schwarz E, Stein DJ, Andreassen OA, van der Meer D, Westlye LT, Theofanopoulou C, Quintana DS (2024)
An evolutionary timeline of the oxytocin signaling pathway
Commun Biol, 7 (1), 471
DOI 10.1038/s42003-024-06094-9, PubMed 38632466

Halvorsen MB, Kildahl AN, Kaiser S, Axelsdottir B, Aman MG, Helverschou SB (2024)
Applicability and Psychometric Properties of General Mental Health Assessment Tools in Autistic People: A Systematic Review
J Autism Dev Disord (in press)
DOI 10.1007/s10803-024-06324-3, PubMed 38613595