Search Results - "McGill, J.J"
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The effects of pyospermia and ureaplasma urealyticum culture positivity on semen quality in subfertile men
Published in Fertility and sterility (01-09-2013)Get full text
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Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome
Published in American journal of medical genetics. Part A (15-11-2005)“…Marfan syndrome (MFS) is an autosomal dominant condition which may involve the cardiovascular, ocular, skeletal, and other systems. Mutations causing MFS are…”
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dynamic role for the mushroom bodies in promoting sleep in Drosophila
Published in Nature (08-06-2006)“…The fruitfly, Drosophila melanogaster, exhibits many of the cardinal features of sleep, yet little is known about the neural circuits governing its sleep. Here…”
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The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
Published in Molecular genetics and metabolism (01-09-2017)“…Mucopolysaccharidosis (MPS) VI is an autosomal recessive lysosomal storage disorder arising from deficient activity of N-acetylgalactosamine-4-sulfatase…”
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MELAS syndrome in an Indigenous Australian woman
Published in Medical journal of Australia (21-11-2011)Get full text
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An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family
Published in Clinical genetics (01-01-2004)Get full text
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