1 Divison of Pediatric Hematology-Oncology, Department Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria 2 Divison of Neonatology, Paediatric Intensive Care & Neuropaediatrics ...

Correspondence to Hildegard Kehrer-Sawatzki, Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany; hildegard.kehrer-sawatzki{at}uni-ulm.de Conclusion These ...

Background Assisted reproductive technologies (ART) such as in vitro fertilisation (IVF) and intracytoplasmic sperm injection (ICSI) are believed to destabilise genomic imprints. An increased ...

Background Preconception carrier screening (PCS) provides the potential to empower couples to make reproductive choices before having an affected child. An important question is what factors influence ...

We report a study of 55 subjects with Smith-Magenis syndrome, aged 9 months to 35 years. Each person has been evaluated with an assessment of “gestalt” and detailed facial measurement, using ...

London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street, Hospital for Children NHS Trust, and The Institute of Child Health, University College London, London, UK Dr K Hussain, ...

Background For female patients with Lynch syndrome (LS), endometrial cancer (EC) is often their first cancer diagnosis. A ...

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations ...

Centre for Family Research, University of Cambridge, UK. There have been growing calls for more education in genetics for the public and in schools. However, studies of the public, school children, ...

Drug Research and Medical Biotechnology, Fraunhofer Institute of Toxicology and Experimental Medicine, Nikolai-Fuchs-Strasse 1, D-30625 Hanover, Germany Correspondence to: J Borlak Drug Research and ...

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