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المؤلفون: Emma Wakeling, Jenny Child, Deborah J G Mackay, Miho Ishida, Christopher D. Byrne, Justin H Davies, I. Karen Temple, Oluwakemi Lokulo-Sodipe, Hazel Inskip, Gudrun E. Moore, Angela Fenwick, Lisa Marie Ballard
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, uniparental disomy, Short stature, Epigenesis, Genetic, Impaired glucose tolerance, Genomic Imprinting, Young Adult, Insulin-Like Growth Factor II, parasitic diseases, Genetics, medicine, Humans, Genetics (clinical), Aged, Chromosome 7 (human), business.industry, Silver Russell syndrome, Silver–Russell syndrome, Genotype-Phenotype Correlations, Retrospective cohort study, DNA Methylation, Middle Aged, medicine.disease, Uniparental disomy, Growth hormone treatment, short stature, Silver-Russell Syndrome, Phenotype, Cohort, Quality of Life, Female, RNA, Long Noncoding, medicine.symptom, imprinting, business
وصف الملف: text; image
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4fcf40152ba1c5a1d9381d94b71adf0Test
https://eprints.soton.ac.uk/437350Test/ -
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المؤلفون: Susan Bint, Emily Cottrell, Vivian Hwa, Avril Mason, Gudrun E. Moore, Miho Ishida, Neil Wright, Iman Al Basiri, Louise A. Metherell, Leo Dunkel, Stephen J Rose, Helen L Storr, Joo Wook Ahn, Artur Bossowski, Sumana Chatterjee, Asma Deeb, Claudia P. Cabrera, James Greening
المصدر: European Journal of Endocrinology
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Genome-wide association study, Biology, Growth hormone, Short stature, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Copy-number variation, Genetic Testing, Insulin-Like Growth Factor I, Child, Gene, Genetics, Human Growth Hormone, Wnt signaling pathway, Infant, General Medicine, medicine.disease, Idiopathic short stature, 030220 oncology & carcinogenesis, Child, Preschool, Cohort, Clinical Study, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61e5c036083d3b0afa33f5f620e75070Test
https://pubmed.ncbi.nlm.nih.gov/33055295Test -
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المؤلفون: Gudrun E. Moore, Miho Ishida, Helen L Storr, Emily Cottrell
المصدر: Endocrine Abstracts.
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Silver–Russell syndrome, Cohort, medicine, medicine.disease, business, Dermatology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ef0cb7168a90caab30e85527f8667f62Test
https://doi.org/10.1530/endoabs.66.oc4.5Test -
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المؤلفون: Joris A. M. van der Post, Charalambos Demetriou, Adi N Mul, Chela James, Faisal I. Rezwan, Emma Peskett, Susanne E Stalman, Frans B. Plötz, Nicole A Nibbering, Miho Ishida, Lia Knegt, Jan M. Wit, Carrie Ris-Stalpers, Lucas Alvizi, Cristina Alemán-Charlet, Marcel M.A.M. Mannens, Peter Henneman, Gudrun E. Moore, W. Baird, Philip Stanier, Nita Solanky, Sayeda Abu-Amero, Marielle Alders, Lydia J. Leon, Gerdine A Kamp, Raoul C.M. Hennekam
المساهمون: Other departments, ACS - Amsterdam Cardiovascular Sciences, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Other Research, Human Genetics, ARD - Amsterdam Reproduction and Development, Obstetrics and Gynaecology, APH - Quality of Care, Paediatric Genetics, ACS - Pulmonary hypertension & thrombosis
المصدر: Journal of Clinical Endocrinology and Metabolism, 103(3), 917-925
Journal of Clinical Endocrinology and Metabolism
Journal of clinical endocrinology and metabolism, 103(3), 917-925. The Endocrine Societyمصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, DNA Copy Number Variations, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Gestational Age, Genome-wide association study, 030105 genetics & heredity, Bioinformatics, Biochemistry, 03 medical and health sciences, Endocrinology, Internal medicine, Exome Sequencing, medicine, Birth Weight, Humans, Genetic Predisposition to Disease, Prospective Studies, Copy-number variation, Prospective cohort study, Exome sequencing, Comparative Genomic Hybridization, Fetal Growth Retardation, Obstetrics, business.industry, Biochemistry (medical), Infant, Newborn, Gestational age, DNA Methylation, medicine.disease, 030104 developmental biology, Infant, Small for Gestational Age, DNA methylation, Cohort, Small for gestational age, Female, business, Genome-Wide Association Study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::377172b894d2b2404edb3d80d245eee2Test
https://doi.org/10.1210/jc.2017-01843Test