Department Of Clinical Genetics 1

1. Retinoblastoma outcomes in Europe: a prospective analysis of 483 patients from 40 countries
2. Regulatory landscape of providing information on newborn screening to parents across Europe
3. Regulatory landscape of providing information on newborn screening to parents across Europe
4. Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
5. The effect of immunomodulatory therapy with recombinant human interferon alpha-2β on blood cytokine levels in children with recurrent episodes of acute obstructive bronchitis
6. Congenital malformations of the urinary system as visceral markers of undifferentiated connective tissue dysplasia
7. Finding a molecular genetic marker for the incidence of recurrent episodes of acute obstructive bronchitis in children
8. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
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