المؤلفون: R. K. J. Olsen, E. KoåˆaåTMã­kovã¡, T. A. Giancaspero, S. Mosegaard, V. Boczonadi, L. Matakoviä‡, A. Veauville Merllié, C. Terrile, T. Schwarzmayr, T. B. Haack, M. Auranen, P. Leone, M. Galluccio, A. Imbard, P. Gutierrez Rios, J. Palmfeldt, E. Graf, C. Vianey Saban, M. Oppenheim, M. Schiff, S. Pichard, O. Rigal, A. Pyle, P. F. Chinnery, V. Konstantopoulou, D. Mã¶slinger, R. G. Feichtinger, B. Talim, H. Topaloglu, T. Coskun, S. Gucer, A. Botta, E. Pegoraro, A. Malena, L. Vergani, D. Mazzã, M. Zollino, D. Ghezzi, C. Acquaviva, T. Tyni, A. Boneh, T. Meitinger, T. M. Strom, N. Gregersen, J. A. Mayr, R. Horvath, M. Barile, H. Prokisch

المساهمون: R.K.J. Olsen, E. KoåˆaåTMã­kovã¡, T.A. Giancaspero, S. Mosegaard, V. Boczonadi, L. Matakoviä‡, A. Veauville Merllié, C. Terrile, T. Schwarzmayr, T.B. Haack, M. Auranen, P. Leone, M. Galluccio, A. Imbard, P. Gutierrez Rio, J. Palmfeldt, E. Graf, C. Vianey Saban, M. Oppenheim, M. Schiff, S. Pichard, O. Rigal, A. Pyle, P.F. Chinnery, V. Konstantopoulou, D. Mã¶slinger, R.G. Feichtinger, B. Talim, H. Topaloglu, T. Coskun, S. Gucer, A. Botta, E. Pegoraro, A. Malena, L. Vergani, D. Mazzã, M. Zollino, D. Ghezzi, C. Acquaviva, T. Tyni, A. Boneh, T. Meitinger, T.M. Strom, N. Gregersen, J.A. Mayr, R. Horvath, M. Barile, H. Prokisch

مصطلحات موضوعية: adult, blotting, western, case-control studie, cells, cultured, electron transport, female, fibroblast, flavin-adenine dinucleotide, frameshift mutation, gene expression profiling, human, infant, newborn, liver, male, mitochondrial disease, multiple acyl coenzyme a dehydrogenase deficiency, muscle, skeletal, mutagenesis, site-directed, nucleotidyltransferase, protein binding, rna, messenger, real-time polymerase chain reaction, reverse transcriptase polymerase chain reaction, riboflavin

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27259049; info:eu-repo/semantics/altIdentifier/wos/WOS:000377286000008; volume:98; issue:6; firstpage:1130; lastpage:1145; numberofpages:16; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/523684Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84971568098

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.04.006Test
http://hdl.handle.net/2434/523684Test

المؤلفون: J.-M. Grinda, S. Pichard, F. Duclos

المصدر: Annales de Cardiologie et d'Angéiologie. 67:388-393

مصطلحات موضوعية: Aortic dissection, Aorta, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Sinus tachycardia, 030204 cardiovascular system & hematology, medicine.disease, Chest pain, Pulmonary embolism, 03 medical and health sciences, 0302 clinical medicine, Aneurysm, medicine.anatomical_structure, 030228 respiratory system, medicine.artery, Angiography, cardiovascular system, medicine, cardiovascular diseases, Radiology, medicine.symptom, Cardiology and Cardiovascular Medicine, business, Sinus (anatomy)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d6f805820c19b25a72e0dcba1c667c53Test
https://doi.org/10.1016/j.ancard.2018.08.001Test

المؤلفون: A.S. Guemann, Bérengère Cador, E. Klising, Anaïs Brassier, Brigitte Chabrol, P. Beze-Beyrie, E. Sacaze, François Feillet, S. Guéguen, T. Billette de Villemeur, M. Barth, Y. Nadjar, Nadia Belmatoug, Serge Amselem, Agathe Roubertie, S. Pichard, I. Dufaure Garé, l’équipe RaDiCo, Marc Tardieu, Bénédicte Héron

المصدر: Revue d'Épidémiologie et de Santé Publique. 69:S104-S105

مصطلحات موضوعية: Epidemiology, Public Health, Environmental and Occupational Health

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::28dcd6e3e4295b073f2de8ee1bdf3c0eTest
https://doi.org/10.1016/j.respe.2021.05.034Test

المؤلفون: Bruno Leheup, Anneke J.A. Kievit, Y. Capri, Cécile Cazeneuve, P. Comet‐Didierjean, Claire Ewenczyk, David Devos, Delphine Héron, Diana Rodriguez, M. Barathon, M. Carneiro, C. Barondiot, I. Strubi‐Villaume, G. Lesca, Isabelle Audo, R. van Minkelen, Agnese Suppiej, F. Dubois, A. Curie, N. Allani‐Essid, M. G. Bah, L. Ratbi, Cyril Mignot, F. Klapczynski, Joel Victor Fluss, Alexandra Durr, C. Gitiaux, Fanny Mochel, Isabelle Meunier, J. Do Cao, Perrine Charles, S. Pichard, D. Gras, Agathe Roubertie

المساهمون: CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Università degli Studi di Ferrara = University of Ferrara (UniFE), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Centre Hospitalier de Meaux, Hôpital Raymond Poincaré [Garches], Erasmus University Medical Center [Rotterdam] (Erasmus MC), Geneva University Hospital (HUG), Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Université Mohammed V de Rabat [Agdal] (UM5), AP-HP Hôpital universitaire Robert-Debré [Paris], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), 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 d'investigation clinique Quinze-Vingts [CHNO] (CIC1423 - CIC QUINZE-VINGTS), Institut Hospitalo-Universitaire FOReSIGHT (IHU FOReSIGHT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO)-Sorbonne Université (SU), Service de génétique [Hôpial Louis Pradel - HCL], Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre Hospitalier Universitaire [Grenoble] (CHU), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Centre Hospitalier Simone Veil de Beauvais [Beauvais], Clinical Genetics

المصدر: EUROPEAN JOURNAL OF NEUROLOGY
EUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 (11), pp.2267-2276. ⟨10.1111/ene.14405⟩
European Journal of Neurology, 27(11), 2267-2276. Wiley-Blackwell Publishing Ltd
European Journal of Neurology, Vol. 27, No 11 (2020) pp. 2267-2276

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, paediatric, Retinal dystrophy, MESH: Spinocerebellar Ataxias, Genetic counseling, Socio-culturale, Severe disease, MESH: Phenotype, Spinocerebellar Ataxias/diagnosis/genetics, 03 medical and health sciences, 0302 clinical medicine, Autosomal dominant cerebellar ataxia, MESH: Child, medicine, Spinocerebellar Ataxias, Humans, 030212 general & internal medicine, Genetic Testing, Child, Genetic testing, childhood onset, paediatric, polyglutamine expansion disease, spinocerebellar ataxia type 7, Ataxin-7, ddc:618, MESH: Humans, medicine.diagnostic_test, MESH: Genetic Testing, business.industry, medicine.disease, Natural history, Phenotype, Neurology, MESH: Ataxin-7, spinocerebellar ataxia type 7, Gait Ataxia, Cerebellar atrophy, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), childhood onset, polyglutamine expansion disease, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7c82cd877098db1f920ca565b3591e3Test
https://hal.science/hal-03939353Test

المؤلفون: N. Baron, Bernard Livarek, G. Gibault-Genty, S. Pichard, A. Vienet-Legué, R. Convers-Domart, J.-L. Georges

المصدر: Annales de Cardiologie et d'Angéiologie. 66:338-342

مصطلحات موضوعية: Gynecology, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, business.industry, medicine, 030212 general & internal medicine, 030204 cardiovascular system & hematology, Pseudo aneurysm, Cardiology and Cardiovascular Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::eca6e2552c6e4c87bd80172aa6631f2aTest
https://doi.org/10.1016/j.ancard.2017.09.007Test

المؤلفون: S, Pichard, J-M, Grinda, F, Duclos

المصدر: Annales de cardiologie et d'angeiologie. 67(5)

مصطلحات موضوعية: Adult, Chest Pain, Dyspnea, Aortic Rupture, Humans, Female, Heart Atria, Sinus of Valsalva, Aortic Aneurysm

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::11c431c61c5a4534d67fb24956f9abcfTest
https://pubmed.ncbi.nlm.nih.gov/30201181Test

المؤلفون: M. Rey, S. Pichard, L. Guigues, V. Mouniee, A. Caillette-Beaudoin, I. Calabrese, V. Berger, C. Combe

المصدر: Néphrologie & Thérapeutique. 14:385-386

مصطلحات موضوعية: Nephrology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a12978e9d868e8497998a860f250ab60Test
https://doi.org/10.1016/j.nephro.2018.07.306Test

المؤلفون: S, Pichard, G, Gibault-Genty, A, Vienet-Legue, N, Baron, R, Convers-Domart, J L, Georges, B, Livarek

المصدر: Annales de cardiologie et d'angeiologie. 66(5)

مصطلحات موضوعية: Aged, 80 and over, Male, Prosthesis-Related Infections, Angiography, Abscess, Transcatheter Aortic Valve Replacement, Electrocardiography, Aortic Valve, Heart Valve Prosthesis, Multidetector Computed Tomography, Enterococcus faecalis, Humans, Aneurysm, False, Gram-Positive Bacterial Infections

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::c7910c6ada5947ae962755f07542c25eTest
https://pubmed.ncbi.nlm.nih.gov/29050736Test

المؤلفون: S. Joannidis, S. Laidi, S. Pichard

المصدر: Annales d'Endocrinologie. 79:405

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8db84b276526d3f02908401ec2a57465Test
https://doi.org/10.1016/j.ando.2018.06.682Test

المؤلفون: J-P, Riveline, F-X, Jollois, N, Messaoudi, S, Franc, F, Lagarde, B, Lormeau, D, Charitanski, A, Benoit, S, Pichard, A, Deburge, E, Dresco, O, Dupuy, G, Charpentier, Sophie, Vidal-Jessel

المصدر: Diabetes & Metabolism. 34:132-139

مصطلحات موضوعية: Insulin pump, Basal rate, medicine.medical_specialty, Pediatrics, Endocrinology, Diabetes and Metabolism, Type 2 diabetes, Insulin Infusion Systems, Endocrinology, Diabetes mellitus, Internal Medicine, medicine, Humans, Registries, Glycated Hemoglobin, Type 1 diabetes, Pregnancy, business.industry, General Medicine, medicine.disease, Surgery, Ketoacidosis, Diabetes Mellitus, Type 1, France, Safety, Ketosis, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c40511e97272663e6a0235593d3c7e60Test
https://doi.org/10.1016/j.diabet.2007.10.010Test