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publishDate:"[2000 TO 2099]"
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/vufind/Search/Results?lookfor=%22McGown%2C+Ivan%22&type=Person&filter%5B%5D=publishDate%3A%22%5B2000+TO+2099%5D%22
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PubPharm (28)
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
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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.
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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
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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
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5
Treatment of Lesch–Nyhan disease with S-adenosylmethionine: Experience with five young Malaysians, including a girl
enthalten in:
Brain and development
| 2014
von
Chen, B.
|
Balasubramaniam, S.
|
McGown, I.
| +5
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6
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
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7
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 & child neurology
| 2013
von
Werkhoven, M.
|
Duley, J.
|
McGown, I.
| +3
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8
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
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9
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
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10
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
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Erscheinungsjahr: 2000-2099
Medienart
28
Aufsätze
15
E-Artikel
15
E-Ressourcen
13
Gedruckte Aufsätze
Zeitschriftentitel
4
Journal of inherited metabolic disease
3
Pediatric and developmental pathology
2
Clinical endocrinology
2
Clinical endocrinology <Oxford>
2
International journal of pediatric endocrinology
2
The Clinical biochemist. Reviews
2
The Medical journal of Australia
1
Brain & development
1
Brain and development
1
Clinical pediatric endocrinology : case reports...
1
Developmental medicine & child neurology
1
Developmental medicine and child neurology
1
Pathology
1
Pediatric and developmental pathology : the off...
1
Pediatric diabetes
1
The Journal of biological chemistry
1
The journal of biological chemistry
1
The medical journal of Australia
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Thema
12
Journal Article
7
Case Reports
5
Research Support, Non-U.S. Gov't
3
21-hydroxylase deficiency
3
AICAR
3
Adenylosuccinate Lyase
3
EC 4.3.2.2
3
High Performance Liquid Chromatography
3
Myoclonic Jerk
3
Plasma Amino Acid
3
Severe Psychomotor Retardation
3
congenital adrenal hyperplasia
3
neonatal screening
3
sudden infant death syndrome
2
19240-42-7
2
415SHH325A
2
4542-23-8
2
7LP2MPO46S
2
Adenosine
2
Adenosine Monophosphate
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Erscheinungszeitraum
2000-
16
2010-2019
12
2000-2009
Erscheinungsjahr(e)
Von:
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Sprache
22
Englisch
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