Seneste publikationer Vis alle (38) »

1. Udgivet

   upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

   Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

2. Udgivet

   Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

   Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

3. Udgivet

   Clinician's guide to genes associated with Rett-like phenotypes - Investigation of a Danish cohort and review of the literature

   Publikation: Bidrag til tidsskrift › Review › Forskning › peer review