-
1
المؤلفون: Helen Woodhead, Ivan McGown, Karissa Ludwig
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Pediatric Carbohydrate Metabolism, Hyperinsulinemic Hypoglycemia, Diabetes, Adrenal and Pituitary Disease, biology, business.industry, Endocrinology, Diabetes and Metabolism, Diabetes mellitus type II, medicine.disease, ABCC8, Pediatric Endocrinology, Congenital hyperinsulinism, biology.protein, Medicine, business, Heterozygous mutation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c93cd986cf9b3356138cccded1dcd58
https://doi.org/10.1210/js.2019-sun-270 -
2
المؤلفون: Stephanie R. Johnson, Mhairi Marshall, Emma L. Duncan, Paul Leo, Matthew A. Brown, Mark Harris, Felicity Newell, Louise S. Conwell, Lisa Anderson, Aideen M. McInerney-Leo, Ivan McGown
المصدر: Pediatric diabetes. 19(4)
مصطلحات موضوعية: 0301 basic medicine, Male, Adolescent, DNA Copy Number Variations, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, 030209 endocrinology & metabolism, medicine.disease_cause, Polymorphism, Single Nucleotide, Maturity onset diabetes of the young, 03 medical and health sciences, 0302 clinical medicine, Insulin Secretion, Internal Medicine, Medicine, Humans, Child, Exome, Exome sequencing, Germ-Line Mutation, Genetics, Mutation, Massive parallel sequencing, Whole Genome Sequencing, business.industry, Point mutation, medicine.disease, HNF1B, 030104 developmental biology, Diabetes Mellitus, Type 2, Pediatrics, Perinatology and Child Health, Congenital hyperinsulinism, Congenital Hyperinsulinism, Female, business
-
3
المؤلفون: Ivan McGown, Wee Teik Keng, Shanti Balasubramaniam, J. Patrick O'Neill, John A. Duley, Gaik Siew Ch’ng, Bee Chin Chen, Lock Hock Ngu
المصدر: Brain and Development. 36:593-600
مصطلحات موضوعية: Male, Purine, Oncology, Inosine monophosphate, S-Adenosylmethionine, medicine.medical_specialty, Adolescent, Lesch-Nyhan Syndrome, chemistry.chemical_compound, Developmental Neuroscience, Internal medicine, medicine, Humans, Hyperuricemia, Child, Adenylosuccinate lyase deficiency, Genetics, Dystonia, Arts syndrome, business.industry, Malaysia, Infant, General Medicine, medicine.disease, Pedigree, Aggression, chemistry, Purines, Hypoxanthine-guanine phosphoribosyltransferase, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), business, Self-Injurious Behavior, Hypoxanthine Phosphoribosyltransferase
-
4
المؤلفون: James Pitt, Teresa Munce, John A. Duley, Michiel Adriaan van Werkhoven, Jeremy L. Freeman, Ivan McGown
المصدر: Developmental Medicine & Child Neurology. 55:1060-1064
مصطلحات موضوعية: Male, Purine, Purine-Pyrimidine Metabolism, Inborn Errors, S-Adenosylmethionine, Spectrometry, Mass, Electrospray Ionization, Adenosine, Genotype, Metabolite, Administration, Oral, Urine, Pharmacology, Biology, medicine.disease_cause, chemistry.chemical_compound, Developmental Neuroscience, medicine, Humans, Longitudinal Studies, Autistic Disorder, Adenylosuccinate lyase, Adenylosuccinate lyase deficiency, Mutation, Adenylosuccinate Lyase, Electroencephalography, medicine.disease, Purine/pyrimidine metabolism, Hypotonia, High-Throughput Screening Assays, chemistry, Biochemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, Chromatography, Liquid
-
5
المؤلفون: Andrew Cotterill, Ivan McGown, Catherine S. Choong, Kristen A Neville, David Cowley, Lin Lin, Mark Harris, John C. Achermann, Salim Aftimos, Joyce Y. Wu
المصدر: Clinical Endocrinology
مصطلحات موضوعية: Steroidogenic factor 1, endocrine system, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Mutation, Missense, Biology, Steroidogenic Factor 1, medicine.disease_cause, Cohort Studies, Exon, Endocrinology, Internal medicine, medicine, Adrenal insufficiency, Humans, Testosterone, Amino Acid Sequence, Disorders of sex development, Cellular localization, Mutation, Disorder of Sex Development, 46,XY, Australasia, Base Sequence, Infant, Newborn, Original Articles, medicine.disease, Up-Regulation, Androgen insensitivity syndrome
-
6
المؤلفون: Tony Huynh, Sam McManus, James Harraway, Ivan McGown, Mark Williams
المصدر: International Journal of Pediatric Endocrinology
مصطلحات موضوعية: Genetics, Sanger sequencing, Candidate gene, Massive parallel sequencing, business.industry, Genomics, DNA sequencing, symbols.namesake, Poster Presentation, symbols, Medicine, business, Genotyping, Illumina dye sequencing, Exome sequencing
-
7
المؤلفون: Erin K. Spiegel, Roberta F. Colman, Ivan McGown, David Cowley, David Patterson, Sharmila Sivendran
المصدر: Journal of Biological Chemistry. 279:53789-53797
مصطلحات موضوعية: Male, Models, Molecular, Hot Temperature, Time Factors, Mutant, Bacillus subtilis, medicine.disease_cause, Polymerase Chain Reaction, Biochemistry, chemistry.chemical_compound, Adenylosuccinate lyase, chemistry.chemical_classification, Mutation, Circular Dichroism, Temperature, Hydrogen-Ion Concentration, Spectrophotometry, Adenylosuccinate, Electrophoresis, Polyacrylamide Gel, Female, Protein Binding, Heterozygote, Ultraviolet Rays, Molecular Sequence Data, Glutamic Acid, Mothers, Biology, Arginine, otorhinolaryngologic diseases, medicine, Humans, Thermotoga maritima, Amino Acid Sequence, Autistic Disorder, Molecular Biology, Gene, Family Health, Aspartic Acid, Sequence Homology, Amino Acid, Adenylosuccinate Lyase, Wild type, DNA, Sequence Analysis, DNA, Cell Biology, biology.organism_classification, Adenosine Monophosphate, Kinetics, Enzyme, Models, Chemical, chemistry, Mutagenesis, Site-Directed
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b28ab46a853efaf416efce979deb323
https://doi.org/10.1074/jbc.m409974200 -
8
المصدر: European Society for Paediatric Endocrinology (ESPE) / 9th Joint Meeting: Predictive Medicine to Improve the Care of Children 9th Joint Meeting of Paediatric Endocrinology, ESPE-PES-APEG-APPES-ASPAE-JSPE-SLEP, Milan, September 2013: Abstracts
مصطلحات موضوعية: Genetics, Sanger sequencing, Proband, medicine.diagnostic_test, Biology, Gene mutation, medicine.disease, HNF1B, Maturity onset diabetes of the young, HNF1A, symbols.namesake, Mutation (genetic algorithm), medicine, symbols, Genetic testing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::44fa8a2ce730ffeab6cae5e348d390ba
https://doi.org/10.1159/isbn.978-3-318-02505-7 -
9
المؤلفون: Andrew Cotterill, Tony Huynh, Mark Harris, Ivan McGown, Ohn Nyunt, Gary M. Leong, David Cowley
المصدر: Clinical Pediatric Endocrinology
مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Mutation-in-Brief, medicine.drug_class, business.industry, Endocrinology, Diabetes and Metabolism, Context (language use), Triple-A syndrome, medicine.disease, Hyperpigmentation, Gastroenterology, Alacrima, Virus, Endocrinology, Mineralocorticoid, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, medicine.symptom, Respiratory system, business, hormones, hormone substitutes, and hormone antagonists, Glucocorticoid, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c10fb0d9e660439f21ef532c3e829601
http://europepmc.org/articles/PMC4004906 -
10
المؤلفون: Jane E. Armes, Fiona Lehane, Amy Broomfield, Mark Williams, Karen Gough, Rohan Lourie, Ivan McGown
المصدر: Pathology. 44(6)
مصطلحات موضوعية: Epigenomics, Candidate gene, Beckwith-Wiedemann Syndrome, Genotype, Mesenchyme, Placenta, Beckwith–Wiedemann syndrome, Biology, Placental Mesenchymal Dysplasia, Pathology and Forensic Medicine, Andrology, Insulin-Like Growth Factor II, Pregnancy, medicine, Humans, Epigenetics, Cyclin-Dependent Kinase Inhibitor p57, Genetic Association Studies, Genetics, Chromosomes, Human, Pair 11, DNA Methylation, medicine.disease, Uniparental disomy, Trophoblasts, medicine.anatomical_structure, Phenotype, DNA methylation, Female
Full Text via ClinicalKey 
Find this article in full text from Springer Verlag. 
PDF full text from Publisher