المؤلفون: Minh-Tuan Huynh, Emilie Landais, Jean-Madeleine De Sainte Agathe, Anne Panchout, De Vanssay De Blavous-Legendre Caroline, Henri Bruel

المصدر: Molecular Genetics and Metabolism Reports, Vol 34, Iss , Pp 100959- (2023)

مصطلحات موضوعية: Novel GLDC likely pathogenic variant, glycine encephalopathy, Polyhydramnios, Chorioangioma, Dandy-Walker malformation, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000058; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/69abc2e37a224567b8f6c0ca5d472000

المؤلفون: Minh-Tuan Huynh, Emilie Landais, Jean-Madeleine De Sainte Agathe, Anne Panchout, Henri Bruel

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100228- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423002285; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/4e67bc8f926041e5ba6957afa7f2a105

المؤلفون: Lisa Vitte, Cyriaque Hauguel, Vincent Benoit, Marie-Camille Genet, Jessica Letot, Henri Bruel, Florian Delaunay, Pascal Le Roux, Priscille Gerardin, Emmanuel Devouche, Gisèle Apter

المصدر: Frontiers in Psychiatry, Vol 13 (2022)

مصطلحات موضوعية: mother-baby unit, neonatal care service, perinatal psychiatry, early perinatal care, interactive dysregulation, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyt.2022.889557/full; https://doaj.org/toc/1664-0640

URL الوصول: https://doaj.org/article/bef04846961d4dddbe7bab47cd2d316e

المؤلفون: Fenny Pangestu, Tim Roosen, Henri Bruel

المصدر: Nirmana, Vol 20, Iss 1, Pp 26-37 (2020)

مصطلحات موضوعية: awareness, video, rookvrije voetbalstadions, fc twente, Drawing. Design. Illustration, NC1-1940

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0215-0905

URL الوصول: https://doaj.org/article/5df5f4c0e91e4754b5ce9d8a1a6a00ac

المؤلفون: Valérie Bertrand, Ekatarina Millardet, Juliette Bouchereau, Caroline Dhenin, Henri Bruel

المصدر: Eating and Weight Disorders - Studies on Anorexia, Bulimia and Obesity. 27:3815-3820

مصطلحات موضوعية: Psychiatry and Mental health, Clinical Psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cc17fd0a80dae5d94ab1e576ba057c8
https://doi.org/10.1007/s40519-022-01520-5

المؤلفون: Fenny Pangestu, Tim Roosen, Henri Bruel

المصدر: Nirmana. 20:26-37

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::22faf6156c2633dc74781240e1ed0f6b
https://doi.org/10.9744/nirmana.20.1.26-37

المؤلفون: Claire-Marine Bérat, Athanasia Stoupa, Henri Bruel, Lena Damaj, Marine Madrange, Perrine Renard, Celia Hoebeke, Magalie Barth, Alice Maltret, Arnaud Wiedemann, Nathalie Boddaert, Chris Ottolenghi, Sebastian Montealegre, Arnaud Hubas, Laure Caccavelli, Peter van Endert, Amélie Blondel, Alexandra Afenjar, Marie-Thérèse Abi-Wardé, Aline Cano, Stéphanie Gobin, Jean-François Benoist, François Feillet, Malou Le Corronc Nuzum, Stéphanie Torre, Patrick Nusbaum, Clément Pontoizeau, Brigitte Chabrol, Hugo Debruge, Michel Polak, Pascale de Lonlay

المصدر: Journal of Inherited Metabolic Disease. 44:415-425

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Encephalopathy, Disease, Rhabdomyolysis, Young Adult, Hypothyroidism, Internal medicine, Intensive care, Genetics, medicine, Humans, Myocyte, Exome, Child, Genetics (clinical), Retrospective Studies, business.industry, Aryl Hydrocarbon Receptor Nuclear Translocator, Infant, Cardiac arrhythmia, Arrhythmias, Cardiac, medicine.disease, Mitochondria, Pedigree, Glutamine, Phenotype, Endocrinology, Mechanism of action, Neurodevelopmental Disorders, Child, Preschool, Mutation, Female, France, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5933aad9a6e49d0275c79c323de06dbb
https://doi.org/10.1002/jimd.12314

المؤلفون: Pascale de Lonlay, Christine Francannet, Arnold Munnich, Jeanne Amiel, Nanda M. Verhoeven, Daniel Rabier, Stanislas Lyonnet, Cornelis Jakobs, Henri Bruel, Alain Picard, Martine Le Merrer

المصدر: American Journal of Medical Genetics. 86:124-129

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Genetic heterogeneity, business.industry, Epileptic encephalopathy, Encephalopathy, nutritional and metabolic diseases, Broad nasal bridge, medicine.disease, Dermatology, Organic aciduria, Central nervous system disease, Epilepsy, Endocrinology, Internal medicine, medicine, D-2-hydroxyglutaric aciduria, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::32e6f5acf4a97b7f270a8ee97ba5e16f
https://doi.org/10.1002/(sici)1096-8628(19990910)86:2<124::aid-ajmg7>3.0.co;2-q

المؤلفون: Christophe Petrel, Caroline Silve, Christine Leroy, Martial Ruat, Henri Bruel, Didier Rognan, Eric Mallet

المساهمون: Transports épithéliaux: bases structurales, modulations, modèles pathologiques, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Claude Bernard - Physiologie et Pathologie ((IFR_2)), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de neurobiologie cellulaire et moléculaire (NBCM), Centre National de la Recherche Scientifique (CNRS), Institut de Neurobiologie Alfred Fessard (INAF), Service de médecine néonatale, Groupe Hospitalier du Havre, Service de pédiatrie médicale et médecine de l'adolescent [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Pharmacochimie de la communication cellulaire (PCC), Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Journal of Biological Chemistry
Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2005, 280 (45), pp.37917-23. ⟨10.1074/jbc.M506263200⟩

مصطلحات موضوعية: Male, Neonatal severe hyperparathyroidism, Class C GPCR, MESH: Amino Acid Sequence, MESH: Base Sequence, Biochemistry, 0302 clinical medicine, MESH: Animals, Receptor, MESH: Phylogeny, Phylogeny, chemistry.chemical_classification, 0303 health sciences, Autosomal-dominant hypocalcemia, Pedigree, Amino acid, MESH: Receptors, AMPA, MESH: Calcium, Metabotropic glutamate receptor 1, 7-transmembrane domain, Female, Functional expression, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Calcium-sensing receptor, MESH: Receptors, Calcium-Sensing, MESH: Mutation, Familial hypocalciuric hypercalcemia, MESH: Rats, MESH: Pedigree, Allosteric modulator, Biology, Metabotropic glutamate-receptor, Protein coupled receptors, 03 medical and health sciences, Animals, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Amino Acid Sequence, Receptors, AMPA, Binding site, Molecular Biology, 030304 developmental biology, G protein-coupled receptor, Binding Sites, MESH: Humans, Base Sequence, Cell Biology, Taste receptors, MESH: Male, Rats, Extracellular Ca2+-sensing receptor, chemistry, MESH: Binding Sites, Metabotropic glutamate receptor, Mutation, Calcium, Receptors, Calcium-Sensing, MESH: Female, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::784042bb855d375795c7d61823c4dad2
https://hal.archives-ouvertes.fr/hal-00022004

المؤلفون: Henri, Bruel, Marcellin, Kibelo, Pierre, Amusini, Helene, Cave, Michel, Polak, Jean Pierre, Chabrolle

المصدر: In Journal de Gynecologie Obstetrique et Biologie de la Reproduction 2005 34(3) Part 1:296-297