Suchergebnisse - "McGown, Ivan"

PubPharm (15)

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

Novel heterozygous deletion in the HNF1β gene - adolescent with antibody negative diabetes, longstanding hyperglycaemia without ketosis, cataracts, small echogenic kidneys with a cortical cyst, pancreatic atrophy, exocrine pancreatic insufficiency and a uterine anomaly

enthalten in: International journal of pediatric endocrinology | 2015

von Conwell, L. | McGown, I.

3

A custom next generation sequencing panel to identify the cause of monogenic disorders of insulin secretion, disorders of sexual development and noonan syndrome

enthalten in: International journal of pediatric endocrinology | 2015

von McGown, I. | Williams, M. | McManus, S. | +2

4

Treatment of Lesch-Nyhan disease with S-adenosylmethionine : experience with five young Malaysians, including a girl

enthalten in: Brain & development | 2014

von Chen, B. | Balasubramaniam, S. | McGown, I. | +5

5

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

6

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

7

The placenta in Beckwith-Wiedemann syndrome : genotype-phenotype associations, excessive extravillous trophoblast and placental mesenchymal dysplasia

enthalten in: Pathology | 2012

von Armes, J. | McGown, I. | Williams, M. | +4

8

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

9

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

10

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