Whole‐exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism
Johnson, S R, Leo, P J, McInerney‐Leo, A M, Anderson, L K, Marshall, M, McGown, I, Newell, F, Brown, M A, Conwell, L S, Harris, M, Duncan, E L
Published in Pediatric diabetes (01.06.2018)
Published in Pediatric diabetes (01.06.2018)
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Androgen receptor genotyping in a large Australasian cohort with androgen insensitivity syndrome; identification of four novel mutations
Jeske, Y W A, McGown, I N, Cowley, D M, Oley, C, Thomsett, M J, Choong, C S Y, Cotterill, A M
Published in Journal of pediatric endocrinology & metabolism : JPEM (01.08.2007)
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Published in Journal of pediatric endocrinology & metabolism : JPEM (01.08.2007)
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Autopsy diagnosis of 21-hydroxylase deficiency CAH in a case of apparent SIDS
Gozzi, Tiziana G, Harris, Naomi P, McGown, Ivan N, Cowley, David M, Cotterill, Andrew M, Campbell, Peter E, Anderson, P Kym, Warne, Garry L
Published in Pediatric and developmental pathology (01.05.2005)
Published in Pediatric and developmental pathology (01.05.2005)
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Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency
Bowling, F, McGown, I, McGill, J, Cowley, D, Tuchman, M
Published in American journal of medical genetics (27.08.1999)
Published in American journal of medical genetics (27.08.1999)
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