المؤلفون: Johanne Auriau, Yves Usson, Pierre-Simon Jouk

المصدر: Journal of Cardiovascular Development and Disease, Vol 11, Iss 1, p 11 (2023)

مصطلحات موضوعية: topology, disclination, cardiac myoarchitecture, liquid crystals, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2308-3425/11/1/11; https://doaj.org/toc/2308-3425

URL الوصول: https://doaj.org/article/7578aa73d1c44450ac7b5169da78d57c

المؤلفون: Johanne Auriau, Yves Usson, Pierre-Simon Jouk

المصدر: Journal of Cardiovascular Development and Disease, Vol 9, Iss 11, p 371 (2022)

مصطلحات موضوعية: anatomy, cardiac myoarchitecture, geometry, topology, liquid crystal, disclination, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2308-3425/9/11/371; https://doaj.org/toc/2308-3425

URL الوصول: https://doaj.org/article/e50bf4599cdc44b9b6e5c9e7cf9bbcf6

المؤلفون: Ba Luu Truong, Pierre-Simon Jouk, Johanne Auriau, Gabrielle Michalowicz, Yves Usson

المصدر: Frontiers in Pediatrics, Vol 8 (2020)

مصطلحات موضوعية: polarized light imaging, 3D architecture myocardial cells, tetralogy fallot, ventriculo infundibular fold, outlet septum, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fped.2020.503054/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/6ca7ab825802411681cb55b26b525674

المؤلفون: Pierre-Simon Jouk, Yves Usson

المصدر: Journal of Cardiovascular Development and Disease, Vol 8, Iss 12, p 179 (2021)

مصطلحات موضوعية: cardiomyocytes, myosin, polarised light microscopy, liquid crystals, myoarchitecture, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2308-3425/8/12/179; https://doaj.org/toc/2308-3425

URL الوصول: https://doaj.org/article/2a42428edead48bfabe207c13abdb4d6

المؤلفون: Charles Coutton, Alexandra S. Vargas, Amir Amiri-Yekta, Zine-Eddine Kherraf, Selima Fourati Ben Mustapha, Pauline Le Tanno, Clémentine Wambergue-Legrand, Thomas Karaouzène, Guillaume Martinez, Serge Crouzy, Abbas Daneshipour, Seyedeh Hanieh Hosseini, Valérie Mitchell, Lazhar Halouani, Ouafi Marrakchi, Mounir Makni, Habib Latrous, Mahmoud Kharouf, Jean-François Deleuze, Anne Boland, Sylviane Hennebicq, Véronique Satre, Pierre-Simon Jouk, Nicolas Thierry-Mieg, Beatrice Conne, Denis Dacheux, Nicolas Landrein, Alain Schmitt, Laurence Stouvenel, Patrick Lorès, Elma El Khouri, Serge P. Bottari, Julien Fauré, Jean-Philippe Wolf, Karin Pernet-Gallay, Jessica Escoffier, Hamid Gourabi, Derrick R. Robinson, Serge Nef, Emmanuel Dulioust, Raoudha Zouari, Mélanie Bonhivers, Aminata Touré, Christophe Arnoult, Pierre F. Ray

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-18 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/03b883f351d94cb6999191bf43221e62

المؤلفون: Charles Coutton, Farid Abada, Thomas Karaouzene, Damien Sanlaville, Véronique Satre, Joël Lunardi, Pierre-Simon Jouk, Christophe Arnoult, Nicolas Thierry-Mieg, Pierre F Ray

المصدر: PLoS Genetics, Vol 9, Iss 3, p e1003363 (2013)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3605140?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/dd74df991d9e4e61a2dd057e6ead14e7

المؤلفون: Allan Bayat, Guillem de Valles‐Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Elisa Biamino, Annette Bley, Sophie Calvert, Patrick Carney, Alfonso Caro‐Llopis, Berten Ceulemans, Janice Cousin, Suzanne Davis, Vincent des Portes, Patrick Edery, Eleina England, Carlos Ferreira, Jeremy Freeman, Blanca Gener, Magali Gorce, Delphine Heron, Michael S. Hildebrand, Aleksandra Jezela‐Stanek, Pierre‐Simon Jouk, Boris Keren, Katja Kloth, Gerhard Kluger, Marius Kuhn, Johannes R. Lemke, Hong Li, Francisco Martinez, Caroline Maxton, Heather C. Mefford, Giuseppe Merla, Hanna Mierzewska, Alison Muir, Sandra Monfort, Joost Nicolai, Jennifer Norman, Gina O'Grady, Barbara Oleksy, Carmen Orellana, Laura Elena Orec, Charlotte Peinhardt, Ewa Pronicka, Monica Rosello, Fernando Santos‐Simarro, Eva Maria Christina Schwaibold, Alexander P. A. Stegmann, Constance T. Stumpel, Elzbieta Szczepanik, Iwona Terczyńska, Julien Thevenon, Andreas Tzschach, Patrick Van Bogaert, Roberta Vittorini, Sonja Walsh, Sarah Weckhuysen, Barbara Weissman, Lynne Wolfe, Alexandre Reymond, Pasquelena De Nittis, Annapurna Poduri, Heather Olson, Pasquale Striano, Gaetan Lesca, Ingrid E. Scheffer, Rikke S. Møller, Lynette G. Sadleir

المساهمون: RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), MUMC+: DA KG Lab Specialisten (9)

المصدر: Epilepsia, 63(4), 974-991. Wiley
Epilepsia
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Bayat, A, de Valles-Ibáñez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P, Caro-Llopis, A, Ceulemans, B, Cousin, J, Davis, S, des Portes, V, Edery, P, England, E, Ferreira, C, Freeman, J, Gener, B, Gorce, M, Heron, D, Hildebrand, M S, Jezela-Stanek, A, Jouk, P S, Keren, B, Kloth, K, Kluger, G, Kuhn, M, Lemke, J R, Li, H, Martinez, F, Maxton, C, Mefford, H C, Merla, G, Mierzewska, H, Muir, A, Monfort, S, Nicolai, J, Norman, J, O'Grady, G, Oleksy, B, Orellana, C, Orec, L E, Peinhardt, C, Pronicka, E, Rosello, M, Santos-Simarro, F, Schwaibold, E M C, Stegmann, A P A, Stumpel, CT, Szczepanik, E, Terczyńska, I, Thevenon, J, Tzschach, A, Van Bogaert, P, Vittorini, R, Walsh, S, Weckhuysen, S, Weissman, B, Wolfe, L, Reymond, A, De Nittis, P, Poduri, A, Olson, H, Striano, P, Lesca, G, Scheffer, I E, Møller, R S & Sadleir, L G 2022, ' PIGN encephalopathy : Characterizing the epileptology ', Epilepsia, vol. 63, no. 4, pp. 974-991 . https://doi.org/10.1111/epi.17173

مصطلحات موضوعية: Epilepsy/diagnostic imaging, Drug Resistant Epilepsy, PROTEINS, Electroencephalography, Intellectual Disability/diagnostic imaging, HYPOTONIA-SEIZURES SYNDROME, PHENOTYPE, congenital disorder of glycosylation, CONGENITAL-ANOMALIES, Phenotype, Neurology, Seizures, intellectual disability, Humans, epilepsy, Female, Human medicine, Neurology (clinical), developmental and epileptic encephalopathy, PRENATAL-DIAGNOSIS, Seizures/genetics, GPI-anchoring disorder, MUTATION

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4449aa5fd5347944f5112b52327194e1
https://cris.maastrichtuniversity.nl/en/publications/0de515e6-beb9-44d5-98da-4fa8681f15b0

المؤلفون: Pauline Le Tanno, Xenia Latypova, John Rendu, Julien Fauré, Véronique Bourg, Marjolaine Gauthier, Gipsy Billy-Lopez, Pierre-Simon Jouk, Klaus Dieterich

المصدر: Journal of Medical Genetics. 60:13-24

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8873ab575991d6c691eeedd90a2056f1
https://doi.org/10.1136/jmedgenet-2021-107823

المؤلفون: Ivo Gut, Sarah Grotto, Céline Bellesme, Arnold Munnich, Cyril Gitiaux, Jeanne Amiel, Chloé Quélin, Annie Laquerrière, Suonavy Khung, Hanitra Ranjatoelina-Randrianaivo, Luc Rigonnot, Christine Francannet, Loic Quevarec, Jérôme Bouligand, Fabienne Prieur, Alexandra Benachi, Valérie Cormier-Daire, Laurence Perrin, Judith Melki, Pierre-Simon Jouk, Flora Nolent, Tania Attié-Bitach, Delphine Héron, Marie-Line Jacquemont, Claire Beneteau, Fabien Guimiot, Laetitia Lambert, Sandra Mercier, Valérie Biancalana, Fanny Laffargue, Elise Boucher, Jean-Louis Bessereau, P. Landrieu, Annick Toutain, Alain Verloes, Alice Goldenberg, Philippe Latour, Dominique Martin-Coignard, Anne Guiochon-Mantel, Dan Mejlachowicz, Damien Sternberg, Haluk Topaloglu, Bruno Eymard, Géraldine Viot, Catherine Fallet-Bianco, Julien Saada, Isabelle Desguerre, Marie-Hélène Saint-Frison, Catherine Vincent-Delorme, Sophie Blesson, Radka Stoeva, Alexandre J. Vivanti, Martine Bucourt, Pascaline Letard, Jérome Maluenda, Laurence Loeuillet, Lionel Van Maldergem, Didier Lacombe, Marcel Tawk, Michèle Granier, Stanislas Lyonnet, Anne-Lise Delezoide, Andrée Delahaye-Duriez, André Mégarbané, Marie Gonzales, Florence Petit, Juliette Piard, Laurence Faivre, Helene Verhelst, Bettina Bessières, Sabine Sigaudy, Sandra Whalen, Valérie Layet, Yline Capri, Fanny Pelluard, Emanuela Abiusi, Klaus Dieterich, Marie Vincent, Marine Legendre, Dana Jaber, Romulus Grigorescu, Florent Marguet, Eric Bieth, Helge Amthor, Christine Barnerias, Estelle Colin, Laetitia Trestard, Mathilde Nizon, Jelena Martinovic, Daniel Amram, Nicoletta Resta

المصدر: JOURNAL OF MEDICAL GENETICS

مصطلحات موضوعية: musculoskeletal diseases, Artrogriposi múltiple congènita, Settore BIO/18 - GENETICA, human genetics, neuromuscular diseases, Genomics, Biology, CONTRACTURES, CLASSIFICATION, diseases, symbols.namesake, Diagnòstic, Gene mapping, arthrogryposis multiplex congenita, Exome Sequencing, OF-FUNCTION MUTATIONS, Genetics, Medicine and Health Sciences, genomics, Humans, Genetics (clinical), Exome sequencing, Arthrogryposis, Sanger sequencing, Arthrogryposis multiplex congenita, Genetic heterogeneity, SPINAL MUSCULAR-ATROPHY, Proteins, nervous system malformations, DYSTROPHY, Disease gene identification, GENE, Human genetics, Pedigree, ETIOLOGY, Phenotype, symbols, neuromuscular, Genètica, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e5ca5c2b4280785da88a26155872ce7
https://hdl.handle.net/1854/LU-8759575

المؤلفون: Anouk Emadali, Pierre-Simon Jouk, Loris Delrieu, Brice Poreau, Hervé Sartelet, Alexia Apostolou, Julien Thévenon, Guillaume Lallemand

المصدر: Pathobiology. 87:302-310

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Glomerular Mesangial Cell, Multicystic dysplastic kidney, Mesenchyma, Biology, Kidney, Pathology and Forensic Medicine, medicine, Humans, Multicystic Dysplastic Kidney, Urothelium, Molecular Biology, Qualitative Research, PI3K/AKT/mTOR pathway, Cell Proliferation, Retrospective Studies, Cysts, TOR Serine-Threonine Kinases, Cell Differentiation, Cell Biology, General Medicine, medicine.disease, Immunohistochemistry, medicine.anatomical_structure, Ureteric bud, Female, Proto-Oncogene Proteins c-akt, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01f4f7b48e9f72fc44be380bec395f83
https://doi.org/10.1159/000509152