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1دورية أكاديمية
المؤلفون: M. Polak, T. Conner, J. Haszard, A. Reeder, M. Harper, L. Houghton
المصدر: Journal of Nutrition & Intermediary Metabolism, Vol 1, Iss C, Pp 22-23 (2014)
مصطلحات موضوعية: Nutrition. Foods and food supply, TX341-641, Biochemistry, QD415-436
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Sommayya Aftab, Diliara Gubaeva, Jayne A L Houghton, Antonia Dastamani, Ellada Sotiridou, Clare Gilbert, Sarah E Flanagan, Anatoly Tiulpakov, Maria Melikyan, Pratik Shah
المصدر: Endocrine Connections, Vol 12, Iss 4, Pp 1-7 (2023)
مصطلحات موضوعية: hyperinsulinism/ hyperammonemia, hi/ha syndrome, glud1, neurodevelopmental disorders, epilepsy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Can Thi Bich Ngoc, Tran Minh Dien, Elisa De Franco, Sian Ellard, Jayne A. L. Houghton, Nguyen Ngoc Lan, Bui Phuong Thao, Nguyen Ngoc Khanh, Sarah E. Flanagan, Maria E. Craig, Vu Chi Dung
المصدر: Frontiers in Endocrinology, Vol 12 (2021)
مصطلحات موضوعية: neonatal diabetes mellitus, ABCC8 mutations, KCNJ11 mutations, sulfonylureas treatment in neonatal diabetes mellitus, diabetes mellitus in infants, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Vera Splittstoesser, Heike Vollbach, Michaela Plamper, Werner Garbe, Elisa De Franco, Jayne A. L. Houghton, Gesche Dueker, Rainer Ganschow, Bettina Gohlke, Felix Schreiner
المصدر: Frontiers in Endocrinology, Vol 12 (2021)
مصطلحات موضوعية: GLIS3, neonatal diabetes, anemia, exocrine pancreatic insufficiency, cholestasis, megalocornea, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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المؤلفون: Jasmin J Hopkins, Alexandra J Childs, Jayne A L Houghton, Thomas I Hewat, Navoda Atapattu, Matthew B Johnson, Kashyap A Patel, Thomas W Laver, Sarah E Flanagan
المصدر: The Journal of Clinical Endocrinology & Metabolism. 108:680-687
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Biochemistry
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87685fc2a196cbb1e4e276824884e5a7
https://doi.org/10.1210/clinem/dgac604 -
6دورية أكاديمية
المؤلفون: Daphne Yau, Thomas W Laver, Antonia Dastamani, Senthil Senniappan, Jayne A L Houghton, Guftar Shaikh, Tim Cheetham, Talat Mushtaq, Ritika R Kapoor, Tabitha Randell, Sian Ellard, Pratik Shah, Indraneel Banerjee, Sarah E Flanagan
المصدر: PLoS ONE, Vol 15, Iss 2, p e0228417 (2020)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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7
المؤلفون: Brian M. Zeglis, Jason S. Lewis, Pat B. Zanzonico, Wolfgang W. Scholz, Sean Carlin, Kristen M. Cunanan, Dalya Abdel-Atti, Rosemery Membreno, Jacob L. Houghton
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b48d12bb04fcc036f3c5083d0127ce7
https://doi.org/10.1158/1535-7163.22508922 -
8
المؤلفون: Sinéad M McGlacken-Byrne, Jasmina Kallefullah Mohammad, Niamh Conlon, Diliara Gubaeva, Julie Siersbæk, Anders Jørgen Schou, Huseyin Demirbilek, Antonia Dastamani, Jayne A L Houghton, Klaus Brusgaard, Maria Melikyan, Henrik Christesen, Sarah E Flanagan, Nuala P Murphy, Pratik Shah
المصدر: McGlacken-Byrne, S M, Mohammad, J K, Conlon, N, Gubaeva, D, Siersbæk, J, Schou, A J, Demirbilek, H, Dastamani, A, Houghton, J A L, Brusgaard, K, Melikyan, M, Christesen, H, Flanagan, S E, Murphy, N P & Shah, P 2022, ' Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia ', European Journal of Endocrinology, vol. 186, no. 4, pp. 417-427 . https://doi.org/10.1530/EJE-21-0897
مصطلحات موضوعية: Male, Adolescent, Endocrinology, Diabetes and Metabolism, Cohort Studies, Genetic Heterogeneity, Endocrinology, Hyperinsulinism, Diabetes Mellitus, Type 1/genetics, Birth Weight, Humans, Hepatocyte Nuclear Factor 1-alpha, Hepatocyte Nuclear Factor 1-alpha/genetics, Child, Medical History Taking, Diazoxide/therapeutic use, Hyperinsulinism/drug therapy, Diazoxide, Infant, Newborn, Infant, General Medicine, Fanconi Syndrome, Hypoglycemia, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Hepatocyte Nuclear Factor 4, Hepatocyte Nuclear Factor 4/genetics, Child, Preschool, Mutation, Diabetes Mellitus, Type 2/genetics, Hypoglycemia/drug therapy, Female, Fanconi Syndrome/genetics
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c633e75590c4bd7905fb8beb09f440
https://doi.org/10.1530/eje-21-0897 -
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المؤلفون: Beverley M. Shields, Thomas W Laver, Thomas Hewat, Joseph C S Jerome, Kashyap A. Patel, Sarah E. Flanagan, Jayne A L Houghton, Daphne Yau
المصدر: European journal of endocrinology
مصطلحات موضوعية: Proband, Male, medicine.medical_specialty, Pediatrics, endocrine system, Endocrinology, Diabetes and Metabolism, Birth weight, Sulfonylurea Receptors, ABCC8, Article, Endocrinology, KATP Channels, Internal medicine, Diazoxide, Medicine, Birth Weight, Humans, Potassium Channels, Inwardly Rectifying, biology, business.industry, Infant, Newborn, General Medicine, Odds ratio, medicine.disease, Mutation, Congenital hyperinsulinism, biology.protein, Gestation, Congenital Hyperinsulinism, Female, business, Hyperinsulinism, hormones, hormone substitutes, and hormone antagonists, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d1acf88ebd5bd6c1ec69a394aebef4f
http://europepmc.org/articles/PMC7611977 -
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المؤلفون: Vilma I.J. Jallinoja, Courtney H. Abbriano, Kavita Bhatt, Amritjyot Kaur, David J. Schlyer, Paul J. Yazaki, Brandon D. Carney, Jacob L. Houghton
المصدر: Journal of Nuclear Medicine. :jnumed.122.265008
مصطلحات موضوعية: Radiology, Nuclear Medicine and imaging
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::18630728366ae786a6fb89a1e733651c
https://doi.org/10.2967/jnumed.122.265008