Associated Papers
Gene mutations impede oocyte maturation, fertilization, and early embryonic development.
Fei CF et al.
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2022
Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS.
Swieringa F et al.
Scientific Reports, 2020
Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency.
Burgin HJ et al.
Febs Letters, 2020
Genetics of the corneal endothelial dystrophies: an evidence-based review.
Aldave AJ et al.
Clinical Genetics, 2013
The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.
Bowman M et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Hereditary angioedema in Greek families caused by novel and recurrent mutations.
Speletas M et al.
Human Immunology, 2009
Clinical pharmacology and pharmacogenetics of thiopurines.
Sahasranaman S et al.
European Journal of Clinical Pharmacology, 2008
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