10 Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK Correspondence to Dr Beatriz Martinez-Delgado, Human Genetics Group, Spanish National Cancer Research Centre ...
1 Academic Unit of Human Development and Health, Human Genetics and Genomics Medicine group, Faculty of Medicine, University of Southampton, Southampton, UK 2 Wessex Clinical Genetics Service, ...
Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a ...
Mammalian experiments provide clear evidence of male line transgenerational effects on health and development from paternal or ancestral early-life exposures such as diet or stress. The few human ...
A formula to calculate recurrence risk for germline mosaicism published by Hartl in 1971 has been updated to include marker information. For practical genetic counselling new, more elaborate tables ...
2 Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA 3 Hearing Section, National Institute on Deafness and ...
Correspondence to Dr Florentia Fostira, Molecular Diagnostics Laboratory, National Centre for Scientific Research NCSR Demokritos, Athens 15310, Greece; florentia_fostira{at}hotmail.com Background ...
OBJECTIVE To analyse the distributions of and generate growth charts for stature and occipitofrontal circumference (OFC) in neurofibromatosis 1 (NF1) patients. DESIGN Cross sectional database survey.
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