jmg.bmj6d
Six at Sixty. Malignant peripheral nerve sheath tumours in NF1: 20-year review of a highly cited paper
The veracity of the estimates in our study was corroborated by a whole population epidemiological study of NF1 in Finland (population 5.5M).5 A total of 58 MPNST were observed from 1987 to 2012, ...
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Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
Correspondence to: Professor Kate Bushby Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK; ...
jmg.bmj2d
The telecanthus-hypospadias syndrome.
Department of Pediatrics, University of Utah, Salt Lake City 84132. The telecanthus-hypospadias (BBB) syndrome is characterised by widely spaced inner ocular canthi and hypospadias of variable degree.
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Paediatric ovarian tumours and their associated cancer susceptibility syndromes
Correspondence to Dr William D Foulkes, Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec H4A 3J1, Canada; william.foulkes{at}mcgill.ca Non-epithelial ovarian tumours ...
jmg.bmj6d
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents
Introduction TMEM16A is a calcium-activated chloride channel expressed in various secretory epithelia. Two siblings presented in early infancy with reduced intestinal peristalsis and recurrent ...
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Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy
3 Asan Institute for Life Sciences, Asan Medical Center, College of Medicine University of Ulsan, Seoul, The Republic of Korea Background Ambroxol (ABX) has been suggested as an augmentative ...