المؤلفون: Gokce-Samar, Zeynep, Vetro, Annalisa, De Bellescize, Julitta, Pisano, Tiziana, Monteiro, Laloe, Penaud, Noémie, Korff, Christian M, Fluss, Joel, Marini, Carla, Cesaroni, Elisabetta, Alvarez, Blanca Mercedes, Sanlaville, Damien, Chatron, Nicolas, Arzimanoglou, Alexis A, Labalme, Audrey, Cuddapah, Vishnu A, Ruggiero, Sarah M, Lecoquierre, Francois, Nicolas, Gael, Marie, Guerrot Anne, Lebas, Axel, Testard, Herve O, Helbig, Katherine L, Ruiz, Anna, Ngoh, Adeline, Kurian, Manju A, Reid, Kimberley, Spaull, Robert, Joset, Pascal, Ramantani, Georgia, Steindl, Katharina, Krenn, Martin, Gerstl, Lucia, Vieker, Silvia, Craiu, Dana, Pendziwiat, Manuela, Haldeman-Englert, Chad, Kanivets, Ilya, Romanova, Irina, Rajan, Deepa S, Rosenfeld, Jill A, Au, Margaret, Grand, Katheryn, Graham, John, Isapof, Arnaud, Villeneuve, Nathalie, Smol, Thomas, Caumes, Roseline, Zacher, Pia, Neuser, Sonja, Tinschert, Sigrid, Platzer, Konrad, Bartolomaeus, Tobias, Mohnke, Ines, Radtke, Maximilian, Jamra, Rami Abou, Helbig, Ingo, Jansen, Floortje E, Koop, Klaas, Rudolf, Gabrielle, Küry, Sebastien, Courchet, Julien, Guerrini, Renzo, Lesca, Gaetan

المصدر: Neurology , 102 (2) , Article e207945. (2024)

مصطلحات موضوعية: Humans, Male, Animals, Mice, Child, Preschool, Adolescent, Young Adult, Adult, Infant, Seizures, Phenotype, Epilepsy, Absence, Generalized, Genotype, Intellectual Disability, Nuclear Receptor Subfamily 1, Group F, Member 2

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10186654Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10186654Test/

المؤلفون: Samar R. El Khoudary, Rachel G. Miller, Debra Rubinstein, Yan Yi, Trevor J. Orchard, Tina Costacou, Jeanine M. Buchanich

المصدر: Menopause

مصطلحات موضوعية: Adult, medicine.medical_specialty, endocrine system diseases, General Mathematics, medicine.medical_treatment, 030209 endocrinology & metabolism, Article, Diabetes Complications, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Diabetes mellitus, Epidemiology, medicine, Humans, Insulin, Child, Reproductive History, Reproductive health, Type 1 diabetes, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics, Applied Mathematics, Obstetrics and Gynecology, medicine.disease, Menopause, Diabetes Mellitus, Type 1, Female, Hormone therapy, business, Hormone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77512168ad3a1735808f413eed08acfaTest
https://doi.org/10.1097/gme.0000000000001772Test

المؤلفون: Johannes Salamon, Dale J. Berg, Shivani Ahlawat, Michael Fisher, Dusica Babovic-Vuksanovic, Jaishri O. Blakeley, K. Ina Ly, Gordon J. Harris, Andrés J. Lessing, Laura M. Fayad, Scott R. Plotkin, Eva Dombi, Victor-Felix Mautner

المصدر: Neurology

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Skin Neoplasms, Adolescent, Neurofibromatoses, MEDLINE, Asymptomatic, Imaging, Young Adult, Surveys and Questionnaires, Humans, Medicine, Clinical care, Neurofibromatosis, Child, Schwannomatosis, Neurofibroma, Plexiform, High prevalence, business.industry, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Clinical trial, Patient population, Neurology (clinical), medicine.symptom, business, Neurilemmoma

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::116688cecd5566b543eaadae3baaac75Test
https://doi.org/10.1212/wnl.0000000000012437Test

المؤلفون: Junho Ahn, Anthony I. Riccio, Dane K. Wukich, Farzam Farahani, Robert L. Wimberly, Paul A. Nakonezny

المصدر: Journal of Pediatric Orthopaedics. 41:e664-e670

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Multivariate analysis, Adolescent, Patient Readmission, Postoperative Complications, Risk Factors, Diabetes mellitus, Internal medicine, Humans, Medicine, Orthopedics and Sports Medicine, Child, Retrospective Studies, business.industry, Incidence (epidemiology), General Medicine, Odds ratio, medicine.disease, Confidence interval, Pulmonary embolism, Diabetes Mellitus, Type 1, Spinal Fusion, Diabetes Mellitus, Type 2, Pediatrics, Perinatology and Child Health, Orthopedic surgery, business, Complication

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::332ef82ea4417c2857b1c25937b36b3bTest
https://doi.org/10.1097/bpo.0000000000001879Test

المؤلفون: Juri Ikemoto, Ryota Kawamura, Shinya Nakamura, Keiji Hanada, Masahiro Serikawa, Tsuyoshi Sekitou, Keisuke Kurihara, Tetsuro Hirano, Tomofumi Tsuboi, Takeshi Mori, Kazuaki Chayama, Yasutaka Ishii

المصدر: Pancreas

مصطلحات موضوعية: Male, Vascular Endothelial Growth Factor A, Pathology, Endocrinology, Diabetes and Metabolism, pancreatic duct cancer, FDG-Positron Emission Tomography, 0302 clinical medicine, Endocrinology, SUVmax - maximal standardized uptake volume, pancreas, Child, FDG-PET, PNEN - pancreatic neuroendocrine neoplasm, Glucose Transporter Type 1, JPS - Japan Pancreas Society, medicine.diagnostic_test, Middle Aged, solid pseudopapillary neoplasm, VEGF - vascular endothelial growth factor, medicine.anatomical_structure, Positron emission tomography, 030220 oncology & carcinogenesis, Female, 030211 gastroenterology & hepatology, Hypoxia-Inducible Factor 1, Pancreas, medicine.drug, Adult, tumor, medicine.medical_specialty, Adolescent, CT - contrast computed tomography, PDC - pancreatic duct cancer, SPN - solid pseudopapillary neoplasm, Young Adult, GLUT1 - glucose transporter protein type 1, 03 medical and health sciences, Fluorodeoxyglucose F18, Internal Medicine, medicine, Carcinoma, Humans, Aged, Pancreatic duct, Fluorodeoxyglucose, Hepatology, business.industry, Cancer, Original Articles, FDG-PET - fluorodeoxyglucose positron emission tomography, medicine.disease, Carcinoma, Papillary, HIF - hypoxia-inducible factor, Pancreatic Neoplasms, Pancreatic Neuroendocrine Neoplasm, Positron-Emission Tomography, Radiopharmaceuticals, pancreatic neuroendocrine neoplasm, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4836cd159bb4e4692bdf47d627d8d59Test
https://doi.org/10.1097/mpa.0000000000001424Test

المؤلفون: Caleb Gottlich, Niyathi Prasad, Paul D. Sponseller, Ada Hamosh, Derek T. Nhan

المصدر: Journal of Pediatric Orthopaedics. 41:e457-e463

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Propionic Acidemia, Movement disorders, Adolescent, Osteoporosis, Population, Glutaric aciduria type 1, 03 medical and health sciences, 0302 clinical medicine, Maple Syrup Urine Disease, medicine, Humans, Orthopedics and Sports Medicine, Child, education, Amino Acid Metabolism, Inborn Errors, Pyruvate Dehydrogenase Complex Deficiency Disease, Retrospective Studies, 030222 orthopedics, education.field_of_study, Glutaryl-CoA Dehydrogenase, Brain Diseases, Metabolic, business.industry, Maple syrup urine disease, General Medicine, Middle Aged, medicine.disease, Osteopenia, Orthopedics, Methylmalonic aciduria, Child, Preschool, Pediatrics, Perinatology and Child Health, Orthopedic surgery, Female, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d56f9af1cf3c0552c291706f1a74f7bTest
https://doi.org/10.1097/bpo.0000000000001812Test

المؤلفون: Ayesha U. Khan, Pedram Gerami, Elsy V. Compres, Daniel Kim, Klaus J. Busam, Joel C. Sunshine, Bin Zhang

المصدر: Am J Dermatopathol

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Skin Neoplasms, Adolescent, Databases, Factual, DNA Mutational Analysis, MAP Kinase Kinase 1, Dermatology, Article, Pathology and Forensic Medicine, Young Adult, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Nevus, Epithelioid and Spindle Cell, MAP2K1, medicine, Humans, Nevus, Genetic Predisposition to Disease, Clinical care, Child, Frameshift Mutation, Aged, Retrospective Studies, business.industry, Melanoma, High-Throughput Nucleotide Sequencing, General Medicine, Middle Aged, medicine.disease, Deep penetrating melanocytic nevus, Tumor recurrence, Phenotype, Treatment Outcome, Child, Preschool, Female, Melanocytoma, Melanin pigment, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58b00619ee8aa9f7f4d59243b1a17f22Test
https://doi.org/10.1097/dad.0000000000001795Test

المؤلفون: Samer Khateb, Christel Condroyer, Crystel Bonnet, Marco Nassisi, Christina Zeitz, Natalie Loundon, Céline Devisme, Christine Petit, Anne-Françoise Roux, Bahram Bodaghi, Saddek Mohand-Said, Sandrine Marlin, Aline Antonio, José-Alain Sahel, Isabelle Audo, Camille Andrieu

المساهمون: The Hebrew University of Jerusalem (HUJ), Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génétique et Physiologie de l'Audition, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de référence des Surdités Génétiques [CHU Necker, Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Fondation Ophtalmologique Adolphe de Rothschild [Paris], University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE), Académie des Sciences [Paris], Institut de France, University College of London [London] (UCL), Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre de référence des Surdités Génétiques, Chaire Génétique et physiologie cellulaire, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Académie des Sciences

المصدر: RETINA. The Journal of Retinal and Vitreous Diseases
RETINA. The Journal of Retinal and Vitreous Diseases, 2020, 40 (8), pp.1603-1615. ⟨10.1097/IAE.0000000000002636⟩
RETINA
RETINA, Lippincott, Williams & Wilkins, 2020, 40 (8), pp.1603-1615. ⟨10.1097/IAE.0000000000002636⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Visual acuity, genetic structures, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, Visual Acuity, Polymerase Chain Reaction, 0302 clinical medicine, Medicine, Child, Usher Syndrome Type 1, General Medicine, Middle Aged, Pedigree, Visual field, Phenotype, Child, Preschool, Myosin VIIa, Cohort, Female, France, medicine.symptom, Usher Syndromes, Tomography, Optical Coherence, Adult, medicine.medical_specialty, Adolescent, Young Adult, 03 medical and health sciences, Ophthalmology, Genetic variation, Electroretinography, Rod-cone dystrophy, Humans, Genetic Association Studies, Retrospective Studies, business.industry, Infant, Dystrophy, Retrospective cohort study, 030104 developmental biology, Mutation, 030221 ophthalmology & optometry, Visual Field Tests, sense organs, Visual Fields, business, Cone-Rod Dystrophies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57ad65d59b4d2f6000268c6ab12ff1afTest
https://doi.org/10.1097/iae.0000000000002636Test

المؤلفون: Luca Frulloni, Lorenzo Brozzi, Enrico Boninsegna, Giacomo Avesani, Giulia Zamboni, Roberto Pozzi Mucelli, Riccardo Manfredi, Riccardo Negrelli

المصدر: Pancreas. 47:1115-1122

مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, Gastroenterology, 0302 clinical medicine, Endocrinology, type 1 and type 2 autoimmune pancreatitis, Diagnosis, Magnetic Resonance, Child, Referral and Consultation, autoimmune pancreatitis, magnetic resonance imaging, autoimmune cholangitis, autoimmune disease, type 1 and type 2 autoimmune pancreatitis, Settore MED/36 - DIAGNOSTICA PER IMMAGINI E RADIOTERAPIA, medicine.diagnostic_test, AIP - autoimmune pancreatitis, MRCP - magnetic resonance cholangiopancreatography, Middle Aged, autoimmune pancreatitis, Magnetic Resonance Imaging, Autoimmune cholangitis, LPSP - lymphoplasmacytic sclerosing pancreatitis, Cholangiopancreatography, Diabetes and Metabolism, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Female, 030211 gastroenterology & hepatology, Adult, medicine.medical_specialty, autoimmune cholangitis, autoimmune disease, CBD - common bile duct, IDCP - idiopathic duct-centric pancreatitis, magnetic resonance imaging, MPD - main pancreatic duct, MRI - magnetic resonance imaging, Adolescent, Aged, Autoimmune Diseases, Cholangiopancreatography, Magnetic Resonance, Diagnosis, Differential, Humans, Pancreatitis, Young Adult, Internal Medicine, Hepatology, 03 medical and health sciences, Internal medicine, medicine, Pathological, Autoimmune pancreatitis, Autoimmune disease, Pancreatic duct, business.industry, Magnetic resonance imaging, medicine.disease, Hyperintensity, Differential, Referral center, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f64669642322b133062514c7885fc3fbTest
https://doi.org/10.1097/mpa.0000000000001142Test

المؤلفون: Ivo Tzvetanov, Kelly Galen, Federico Gheza, Caterina Di Bella, Jose Oberholzer, Mario Spaggiari, Maya Campara, Enrico Benedetti, Pierpaolo Di Cocco

المصدر: Transplantation. 102:1732-1739

مصطلحات موضوعية: Adult, Graft Rejection, Male, medicine.medical_specialty, Glycated Hemoglobin A, Adolescent, medicine.medical_treatment, 030230 surgery, Pancreas transplantation, Age Factors, Body Weight, Child, Diabetes Mellitus, Type 1, Donor Selection, Female, Follow-Up Studies, Graft Survival, Humans, Middle Aged, Organ Size, Pancreas, Pancreas Transplantation, Retrospective Studies, Risk Factors, Tissue Donors, Young Adult, Single Center, 03 medical and health sciences, 0302 clinical medicine, Diabetes mellitus, Diabetes Mellitus, medicine, Young adult, Glycated Hemoglobin, Transplantation, geography, geography.geographical_feature_category, business.industry, Retrospective cohort study, medicine.disease, Islet, Surgery, Increased risk, 030211 gastroenterology & hepatology, business, Type 1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b351a6c67dbfe85056ec8062549feb1cTest
https://doi.org/10.1097/tp.0000000000002208Test