Latest publications

Misceo D, Senaratne LDS, Mero IL, Sundaram AYM, Bjørnstad PM, Szczałuba K, Gasperowicz P, Kamien B, Nedregaard B, Holmgren A, Strømme P, Frengen E (2023)
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome
Genes (Basel), 14 (11)
DOI 10.3390/genes14111985, PubMed 38002928

Khodaeian M, Bitarafan F, Garrousi F, Sardehie EA, Pak N, Hosseinpour S, Shakiba M, Falah M, Garshasbi M, Tavasoli AR (2023)
Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage
J Clin Lab Anal, 37 (21-22), e24983
DOI 10.1002/jcla.24983, PubMed 37950505

Bitarafan F, Khodaeian M, Garrousi F, Khalesi R, Ghazi Nader D, Karimi B, Alibakhshi R, Garshasbi M (2023)
Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report
BMC Endocr Disord, 23 (1), 155
DOI 10.1186/s12902-023-01388-1, PubMed 37474955