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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Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome ...

We report a pedigree in which six males died of cardiac failure within the first eight months of life. These males were related through healthy females, as with X linked recessive inheritance. There ...

1 Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children’s Hospital, Alder Hey, Eaton Road, Liverpool L12 2AP, UK 2 Merseyside and Cheshire Molecular Genetics Laboratory, ...

Background The regulation of the chromatin state by epigenetic mechanisms plays a central role in gene expression, cell function, and maintenance of cell identity. Hereditary disorders of chromatin ...

Correspondence to Dr Akie Nakamura, Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan; akieda{at}med.hokudai.ac.jp and Masayo ...

1 Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA 2 Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, ...

The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism ...

1 International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland 2 Clinic of Urology, Pomeranian Medical University, Szczecin 3 Cancer ...

OBJECTIVE To review all cases with segmental and/or complex uniparental disomy (UPD), to study aetiology and mechanisms of formation, and to draw conclusions. DESIGN Searching published reports in ...

1 Department of Laboratory Medicine and Pathobiology, St Michael’s Hospital Toronto, Canada 2 Cancer Research Program, The Hospital for Sick Children, Department of Immunology and Heart & Stroke ...