المؤلفون: Juliette Dupont, José Pedro Vieira, Ana Lisa Taylor Tavares, Carla Ribeiro Conceição, Suliman Khan, Aida Maria Bertoli‐Avella, Ana Berta Sousa

الإتاحة: https://doi.org/10.1111/cge.13922/v2/response1Test

المؤلفون: Juliette Dupont

العلاقة: http://ovipot.hypotheses.org/9853Test

الإتاحة: http://ovipot.hypotheses.org/9853Test

المؤلفون: Juliette Dupont

المصدر: Politique européenne. 52:186

مصطلحات موضوعية: Migration studies, Sociology and Political Science, media_common.quotation_subject, Political Science and International Relations, Immigration, Economic history, Ethnology, Sociology, media_common

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::278577678cab799c0058134209c7a50dTest
https://doi.org/10.3917/poeu.052.0186Test

المؤلفون: Carla Pereira, Sian Ellard, Rui Duarte, Lurdes Sampaio, Ana Medeira, Juliette Dupont

المصدر: Journal of pediatric endocrinologymetabolism : JPEM. 25(3-4)

مصطلحات موضوعية: Adult, Blood Glucose, Pediatrics, medicine.medical_specialty, medicine.drug_class, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Administration, Oral, DEND syndrome, medicine.disease_cause, Epilepsy, Endocrinology, Diabetes mellitus, Internal medicine, Glyburide, medicine, Diabetes Mellitus, Humans, Hypoglycemic Agents, Insulin, Medical history, Family, Potassium Channels, Inwardly Rectifying, Child, Glycated Hemoglobin, Mutation, Portugal, business.industry, Infant, Newborn, Permanent neonatal diabetes mellitus, medicine.disease, Sulfonylurea, Treatment Outcome, Pediatrics, Perinatology and Child Health, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fbeb6d5850cb99ce5fc736ff49a5a55Test
https://pubmed.ncbi.nlm.nih.gov/22768671Test

المؤلفون: Nicole de Leeuw, Simone P A van den Heuvel, Alyson Bradbury, Arjan P.M. de Brouwer, Michael Parker, Leo P. ten Kate, Bert B.A. de Vries, Lisenka E.L.M. Vissers, Juliette Dupont, David A. Koolen, Willy M. Nillesen, James Steer

المساهمون: Human genetics, EMGO - Quality of care

المصدر: European Journal of Human Genetics, 20, 729-33
European Journal of Human Genetics, 20(7), 729-733. Nature Publishing Group
Koolen, D A, Dupont, J, de Leeuw, N, Vissers, L E L M, van den Heuvel, S P A, Bradbury, A, Steer, J, de Brouwer, A P M, ten Kate, L P, Nillesen, W M, de Vries, B B A & Parker, M J 2012, ' Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism ', European Journal of Human Genetics, vol. 20, no. 7, pp. 729-733 . https://doi.org/10.1038/ejhg.2012.1Test
European Journal of Human Genetics, 20, 7, pp. 729-33

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Monosomy, Adolescent, Genetic counseling, Buccal swab, Germline mosaicism, Biology, Article, Congenital Abnormalities, Risk Factors, Intellectual Disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Lymphocytes, Sibling, Child, Homologous Recombination, Interphase, Genetics (clinical), In Situ Hybridization, Fluorescence, Metaphase, Genetic testing, Cell Nucleus, medicine.diagnostic_test, Mosaicism, Infant, Syndrome, Microdeletion syndrome, medicine.disease, 17q21.31 microdeletion syndrome, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Pedigree, Haplotypes, Child, Preschool, Female, Chromosome Deletion, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Chromosomes, Human, Pair 17

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::453d9bae3d8d594e4bb95023fa6a4d56Test
https://pubmed.ncbi.nlm.nih.gov/22293690Test

المؤلفون: Juliette Dupont, Ana Isabel Lopes, Sara Brito, Marta Isabel Póvoas

المصدر: BMJ Case Reports. :bcr2015211345

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Colon, Mucocutaneous zone, Mutation, Missense, Peutz-Jeghers Syndrome, STK11, Colonic Polyps, Peutz–Jeghers syndrome, Protein Serine-Threonine Kinases, Gene mutation, Gastroenterology, Article, Polyps, AMP-Activated Protein Kinase Kinases, Intussusception (medical disorder), Internal medicine, Intestine, Small, medicine, Humans, Medical history, Child, Ileal Diseases, Genetic heterogeneity, business.industry, Stomach, Genetic Variation, Exons, General Medicine, medicine.disease, digestive system diseases, Phenotype, Child, Preschool, business, Intussusception, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f7302331481b6fb25a004e96e17be92Test
https://doi.org/10.1136/bcr-2015-211345Test

المؤلفون: Sónia Pereira, Bruno Cardoso, Margarida Ejarque-Albuquerque, Graça Oliveira, Susana Castanhinha, Gabriel Miltenberger-Miltenyi, Juliette Dupont

المصدر: Clinical dysmorphology. 19(3)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Core Binding Factor Alpha 1 Subunit, Pathology and Forensic Medicine, Parietal Bone, Pregnancy, Medicine, Humans, Genetics (clinical), Bone Diseases, Developmental, Cleidocranial Dysplasia, business.industry, Skull, Infant, Newborn, Infant, General Medicine, medicine.disease, RUNX2, Radiography, medicine.anatomical_structure, Developmental genetics, Amino Acid Substitution, Dysplasia, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, Female, Anatomy, business, Parietal bone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::073e379e77d7ea458cef57a2f7f1fbe3Test
https://pubmed.ncbi.nlm.nih.gov/20299969Test

المؤلفون: Joslyn L. Gumbs, Fenghua Wang, Kanae Hirabayashi, Satoshi Ohira, Anne Speierer, Markus Vogt, Makiko Ohyama, Friederike Freiburg, Kypros H. Nicolaides, Tanri Shiozawa, Hisanori Kobara, Makoto Kanai, Inka Zaiss, Rui Carvalho, Takashi Ashida, Joachim W. Dudenhausen, Cecília Pardal Monteiro, Tze-Kin Lau, Hiroshi Ishikawa, Satz Mengensatzproduktion, Druck Reinhardt Druck Basel, Jun-jie Sun, Ryosuke Osada, João Paulo Marques, Juliette Dupont, Karine Barseghyan, David A. Miller, Yasufumi Itani, Joana Pauleta, Gertrudes Borges, Leona Poon, Norihiko Kikuchi, George I. Papaioannou, Masako Miyake, Yukichi Tanaka, Gaoyan Deng, Mark I. Evans, Maria Antonieta Melo, Jörn Siemer, Alexander Weichert, Marc Sütterlin, Shin-ichi Nishio, Jiacong Mo, Jackie Ross, Argyro Syngelaki, Karim D. Kalache, Sven Kehl, Luís M. Graça

المصدر: Fetal Diagnosis and Therapy. 28:241-242

مصطلحات موضوعية: Gerontology, Embryology, Index (economics), business.industry, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology, Medicine, Radiology, Nuclear Medicine and imaging, Subject (documents), General Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::47645482b210f9ee9407fc580786e619Test
https://doi.org/10.1159/000322426Test

المؤلفون: Bruno Filipe, Célia Baltazar, Sara Belga, Pedro Lage, Cristina Albuquerque, António Dias Pereira, Paula Chaves, Isabel Claro, Juliette Dupont, Paula Rodrigues

المصدر: Gastroenterology. 140:S-822

مصطلحات موضوعية: Genetics, Hepatology, business.industry, Gastroenterology, language, Medicine, Portuguese, business, medicine.disease, Genotype-Phenotype Correlations, language.human_language, Familial adenomatous polyposis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0fbb89f4ec4c207cc35d5786a5a11532Test
https://doi.org/10.1016/s0016-5085Test(11)63404-5

المؤلفون: Maria Beatriz P.P. Oliveira, E. Silva Artur Costa, Margarida Albuquerque, Juliette Dupont, Bruno A. Cardoso

المصدر: Early Human Development. 84:S117

مصطلحات موضوعية: medicine.medical_specialty, Fulminant hepatic failure, Myeloid, medicine.anatomical_structure, business.industry, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Obstetrics and Gynecology, business, Gastroenterology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7a0bd5cce2ffbd4df7373efac4c3246cTest
https://doi.org/10.1016/j.earlhumdev.2008.09.301Test