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

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 Society

مصطلحات 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

المؤلفون: N. Moreno, Melissa Lees, Miho Ishida, Debbie Sell, Emma Peskett, Rimante Seselgyte, Deborah Morrogh, Philip Stanier, Gudrun E. Moore, Charalambos Demetriou, Dale Bryant, Erwin Pauws, Martin Farrall, Brian C. Sommerlad

مصطلحات موضوعية: 0301 basic medicine, Male, Linkage disequilibrium, DNA Mutational Analysis, Palatine Tonsil, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, 03 medical and health sciences, 0302 clinical medicine, Velopharyngeal insufficiency, Genetic linkage, medicine, Missense mutation, Humans, Copy-number variation, General Dentistry, Exome sequencing, Genetics, Soft palate, Research Reports, Forkhead Transcription Factors, 030206 dentistry, Pedigree, 030104 developmental biology, medicine.anatomical_structure, Uvula, Child, Preschool, Absent uvula, Egypt, Female, Palate, Soft

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74cca4637eb8697b7e7111c11fe8da7cTest
https://europepmc.org/articles/PMC6535918Test/

المؤلفون: James Greening, Gudrun E. Moore, Miho Ishida, Neil Wright, Helen L Storr, Martin O. Savage, Avril Mason, Louise A. Metherell, Basiri Iman Al, Artur Bossowski, Sumana Chatterjee, Emily Cottrell, Asma Deeb, Stephen J Rose, Susan Bint, JooWook Ahn

المصدر: Endocrine Abstracts.

مصطلحات موضوعية: Genetics, medicine, Copy-number variation, medicine.symptom, Biology, Short stature, Phenotype

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::31ca26688e1a53e2732a0840f2008035Test
https://doi.org/10.1530/endoabs.58.oc5.8Test