Associated Papers
Extensive genetic screening of Iranian Factor FVII-deficient individuals unraveled several novel mutations and postulated founder effects in some cases.
Ravanbod S et al.
Research and Practice in Thrombosis and Haemostasis, 2023
Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency.
Burgin HJ et al.
Febs Letters, 2020
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
Madeira JL et al.
Clinical Endocrinology, 2017
Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.
Pérez-Dueñas B et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2009
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