Suchergebnisse - "McGown, Ivan"

PubPharm (7)

1

A novel INS mutation in a family with maturity-onset diabetes of the young : Variable insulin secretion and putative mechanisms

enthalten in: Pediatric diabetes | 2018

von Johnson, S. | McGown, I. | Oppermann, U. | +3

2

Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-l-methionine as a treatment method

enthalten in: Developmental medicine and child neurology | 2013

von van Werkhoven, M. | Duley, J. | McGown, I. | +3

3

A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development

enthalten in: Clinical endocrinology | 2013

von Wu, J. | McGown, I. | Lin, L. | +7

4

Is it time to commence newborn screening for congenital adrenal hyperplasia in Australia?

enthalten in: The Medical journal of Australia | 2011

von Wu, J. | Sudeep | Cowley, D. | +3

5

Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations

enthalten in: Journal of inherited metabolic disease | 2010

von Chen, B. | McGown, I. | Thong, M. | +5

6

A Novel V185DfsX4 Mutation of the AAAS Gene in a 2-year-old Boy with Triple A Syndrome

enthalten in: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology | 2009

von Huynh, T. | McGown, I. | Nyunt, O. | +4

7

Autopsy diagnosis of 21-hydroxylase deficiency CAH in a case of apparent SIDS

enthalten in: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society | 2005

von Gozzi, T. | Harris, N. | McGown, I. | +5

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