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Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease
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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A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1α
Ms F Zahir, Medical Genetics Research Unit, University of British Columbia, Box 153, Children’s and Women’s Hospital, 4500 Oak Street, Vancouver, BC, Canada, V6H 3N1; farahz{at}interchange.ubc.ca The ...
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The first three mosaic cri du chat syndrome patients with two rearranged cell lines
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Comparison of X-chromosome inactivation patterns in multiple tissues from human females
Section of Medical Genetics and Molecular Medicine, Children’s Mercy Hospitals and Clinics and University of Missouri - Kansas City School of Medicine, Kansas City, Missouri, USA Dr M G Butler, ...
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A clinical study of patients with multiple isolated neurofibromas
aGenetics and Teratology Unit, Massachusetts General Hospital, Boston, MA, USA, bDepartments of Pathology and Neurosurgery, Massachusetts General Hospital, Boston, MA ...
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Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme
4 Department of Radiology, South Manchester University Hospital Trust, Manchester, UK 5 Department of Medical Oncology, Christie Hospital, Manchester, UK Correspondence to: Professor D G Evans ...