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1
المؤلفون: Julie, Støy, Siri Atma W, Greeley, Veronica P, Paz, Honggang, Ye, Ashley N, Pastore, Kinga B, Skowron, Rebecca B, Lipton, Fran R, Cogen, Graeme I, Bell, Louis H, Philipson, W, Zipf
المصدر: Pediatric Diabetes. 9:450-459
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Neonatal diabetes, Receptors, Drug, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Sulfonylurea Receptors, Article, ABCC8, Diabetes Complications, Diabetes mellitus, Glyburide, Internal Medicine, Humans, Insulin, Medicine, Potassium Channels, Inwardly Rectifying, Child, Monogenic Diabetes, biology, Learning Disabilities, business.industry, Extramural, Infant, Newborn, Infant, Permanent neonatal diabetes mellitus, medicine.disease, Infant newborn, United States, Pedigree, Surgery, Diabetes Mellitus, Type 1, Child, Preschool, Pediatrics, Perinatology and Child Health, biology.protein, ATP-Binding Cassette Transporters, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cd90e3f2c210ffb113f01407a7f30abTest
https://doi.org/10.1111/j.1399-5448.2008.00433.xTest -
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المؤلفون: Xiaoyu Wang, Naoko Iwasaki, Graeme I. Bell, Manami Hara, Yasuhiko Iwamoto, Veronica P Paz, Masashi Honda
المصدر: Journal of Human Genetics. 46:285-288
مصطلحات موضوعية: Adult, Male, Mutation, Missense, Receptors, Cytoplasmic and Nuclear, Peroxisome proliferator-activated receptor, Biology, medicine.disease_cause, Maturity onset diabetes of the young, Gene Frequency, Japan, Diabetes mellitus, Genetics, medicine, Humans, Missense mutation, Coding region, Genetic Testing, Age of Onset, Gene, Alleles, Genetics (clinical), Family Health, chemistry.chemical_classification, Mutation, Chi-Square Distribution, Intron, Genetic Variation, medicine.disease, Diabetes Mellitus, Type 2, chemistry, Case-Control Studies, Female, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb235a26541db705186384dc75e45b6aTest
https://doi.org/10.1007/s100380170080Test -
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المؤلفون: Stavit A, Shalev, Yardena, Tenenbaum-Rakover, Yoseph, Horovitz, Veronica P, Paz, Honggang, Ye, David, Carmody, Heather M, Highland, Eric, Boerwinkle, Craig L, Hanis, Donna M, Muzny, Richard A, Gibbs, Graeme I, Bell, Louis H, Philipson, Siri Atma W, Greeley
المصدر: Pediatric diabetes. 15(3)
مصطلحات موضوعية: Male, Heterozygote, Developmental Disabilities, Infant, Newborn, Membrane Proteins, Severity of Illness Index, Infant, Newborn, Diseases, Article, Neurologic Manifestations, Blindness, Cortical, Fatal Outcome, Amino Acid Substitution, Diabetes Mellitus, Microcephaly, Humans, Point Mutation, Epilepsy, Generalized, Carrier Proteins, Frameshift Mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::7ab1427cfcd676e03a74fa9b0308b9eaTest
https://pubmed.ncbi.nlm.nih.gov/24138066Test