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Association of pro/anti-infl ammatory cytokine gene variants in renal transplant patients with allograft outcome and cyclosporine immunosuppressant levels

Long-term efficacy of oral deferiprone in management of iron overload in beta thalassemia major

Carbimazole/methimazole embryopathy in siblings: a possible genetic susceptibility

A de novo mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome

Mandibulofacial dysostosis with microcephaly: mutation and database update

ALG1-CDG: clinical and molecular characterization of 39 unreported patients

Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Sotos syndrome: an unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor

Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly

Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome in humans and ciliopathy phenotypes in Zebrafish

DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency

Expansion of phenotype of DDX3X syndrome: six new cases

Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease

De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay

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