المؤلفون: Danielle Drachmann, Austin Carrigg, David A. Weinstein, Jacob Sten Petersen, Henrik Thybo Christesen

المصدر: JIMD Reports, Vol 62, Iss 1, Pp 70-73 (2021)

مصطلحات موضوعية: Down syndrome, GYG2, hypoglycemia, ketones, survey, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/598744c01ba84884a24612bc93e2281a

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المؤلفون: Austin Carrigg, Danielle Drachmann, Henrik Thybo Christesen, David A. Weinstein, Jacob Sten Petersen

المصدر: JIMD Reports, Vol 62, Iss 1, Pp 70-73 (2021)
Drachmann, D, Carrigg, A, Weinstein, D A, Petersen, J S & Christesen, H T 2021, ' Ketotic hypoglycemia in patients with Down syndrome ', JIMD Reports, vol. 62, no. 1, pp. 70-73 . https://doi.org/10.1002/jmd2.12241
JIMD Reports

مصطلحات موضوعية: Research Report, medicine.medical_specialty, Down syndrome, ketones, Endocrinology, Diabetes and Metabolism, Hypoglycemia, QH426-470, Biochemistry, Genetics and Molecular Biology (miscellaneous), Glucagon, Diseases of the endocrine glands. Clinical endocrinology, Internal medicine, Internal Medicine, medicine, Genetics, Glycogen storage disease type 0, survey, Glycogen synthase, biology, business.industry, Research Reports, medicine.disease, RC648-665, Ketotic hypoglycemia, Endocrinology, hypoglycemia, GYG2, biology.protein, Ketosis, Trisomy, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb5b163b7c7e9bba97c2887581ca4b73
https://doaj.org/article/598744c01ba84884a24612bc93e2281a

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المؤلفون: Mensah, Martin Atta

مصطلحات موضوعية: X chromosome, next generation sequencing, Y chromosome, pseudoautosomal region, sex chromosomes, GYG2, evolution, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit, XG

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1312c3d2e3fd5572eaec01b02b2c4aa
https://refubium.fu-berlin.de/handle/fub188/7985

المؤلفون: Gian Paolo Tonini, Maria Capasso, Raffaella Defferrari, Maria Antonietta Tufano, Lucio Nitsch, Tommy Martinsson, Katia Mazzocco, Annalisa Passariello, Roberta Migliorati, Daniele De Brasi, Paolo Siani, Rita Genesio

المساهمون: Passariello, Annalisa, De Brasi, D, Defferrari, R, Genesio, R, Tufano, M, Mazzocco, K, Capasso, M, Migliorati, Roberta, Martinsson, T, Siani, P, Nitsch, Lucio, Tonini, Gp

المصدر: European journal of medical genetics. 56(11)

مصطلحات موضوعية: SLE, domain containing 5, Gene Dosage, European cytogeneticists association register of unbalanced chromosome aberration, Germline, Loss of heterozygosity, Neuroblastoma, pseudo autosomal region 1, systemic lupus erythematosus, MYCN, DECIPHER, Jacobsen syndrome, multiplex ligation-dependent probe amplification, 11q syndrome, Genetics (clinical), Genetics, Oncogene Proteins, N-Myc Proto-Oncogene Protein, 123-iodine metaidobenzoguadinyl scintigrafy, database of genomic variant, MMP, medicine.diagnostic_test, Brain Neoplasms, MMP13, Nuclear Proteins, General Medicine, Syndrome, matrix metalloproteinase gene, DGV, PAR1, MLPA, International NB Staging System, structural copy number variation, ECARUCA, GYG2, array comparative genomic hybridization, Female, INSS, ARSD, matrix metalloproteinase 13, Chromosome Deletion, ARSE, CR, ARSH, DCUN1D5, CNV, Trigonocephaly, Biology, Craniosynostoses, FISH, aCGH, Hypotelorism, critical region, medicine, MCA/MR, Humans, Abnormalities, Multiple, DCN1, Multiplex ligation-dependent probe amplification, fluorescence in situ hybridization, Oncogene, Germ-Line Mutation, Chromosomes, Human, Pair 11, database of chromosomal imbalance and phenotype in humans using ensembl resource, Infant, arilsulphatases gene, multiple congenital anomaly/mental retardation, medicine.disease, (123)MIBG, defective in cullin neddylation 1, Cancer research, NB, glycogenin 2 gene, Fluorescence in situ hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3d103735750a021ada53799c84d40c2
https://pubmed.ncbi.nlm.nih.gov/24035971

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المؤلفون: Mensah, Martin Atta

الإتاحة: http://data.europeana.eu/aggregation/europeana/2048441/item_IRQVMNXIJ7BUANTPUEYGSM2F6PVPPDBD