المؤلفون: Đorđević Vladan, Staletović Danijela, Novaković Emilija, Arsić Zoran, Ivković Rastko, Stevanović Momir, Stašević-Karličić Ivana, Marjanović Dragan, Novaković Tatjana

المصدر: Srpski Arhiv za Celokupno Lekarstvo, Vol 152, Iss 3-4, Pp 124-129 (2024)

مصطلحات موضوعية: periodontitis, prevalence, young adults, mental disorders, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0370-8179; https://doaj.org/toc/2406-0895

URL الوصول: https://doaj.org/article/1f6332ccbb3d4b4482b57a7c59368fcf

المؤلفون: Arsić Zoran, Jovanović Radovan, Đorđević Aleksandar, Šehalić Meliha, Marjanović Dragan, Mikić Mirko, Vlahović Zoran, Mladenović Raša

المصدر: Vojnosanitetski Pregled, Vol 79, Iss 1, Pp 17-24 (2022)

مصطلحات موضوعية: aggregatibacter actinomyctemcomitans, periodontitis, photochemotherapy, polymerase chain reaction, porphyromonas gingivalis, treponema denticola, treatment outcome, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0042-8450; https://doaj.org/toc/2406-0720

URL الوصول: https://doaj.org/article/2f53ac78aae14e249bc9da9bab56e7ce

المؤلفون: Vujović Sanja, Marjanović Dragan, Stevanović Momir, Bijelić Borivoj, Đorđević Vladan, Staletović Danijela, Joksimović Ena, Desnica Jana

المصدر: Srpski Arhiv za Celokupno Lekarstvo, Vol 150, Iss 7-8, Pp 384-389 (2022)

مصطلحات موضوعية: covid-19, pandemic, stress, periodontal disease, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0370-8179; https://doaj.org/toc/2406-0895

URL الوصول: https://doaj.org/article/d3d198c5ef904c3dbe6101459a909214

المؤلفون: Leštarević Snežana, Savić Slađana, Vitković Leonida, Mandić Predrag, Mijović Milica, Dejanović Mirjana, Marjanović Dragan, Rančić Ivan, Filipović Milan

المصدر: Praxis Medica, Vol 50, Iss 1-2, Pp 35-43 (2021)

مصطلحات موضوعية: sars-cov-2 virus, respiratory system, immune response, cytokine storm, Medicine

وصف الملف: electronic resource

Relation: https://scindeks-clanci.ceon.rs/data/pdf/0350-8773/2021/0350-87732101035L.pdf; https://doaj.org/toc/0350-8773; https://doaj.org/toc/2560-3310

URL الوصول: https://doaj.org/article/fc1921ed0d03466c848800e17dcc642c

المؤلفون: Mitić Aleksandar, Živković Milan, Živković Dušan, Popović Lidija, Veličković Zorana, Miladinović Milan, Šubarić Ljiljana, Marjanović Dragan, Cvetković Andrijana

المصدر: Vojnosanitetski Pregled, Vol 78, Iss 3, Pp 310-316 (2021)

مصطلحات موضوعية: odontoblasts, endodontics, dentin, biocompatible materials, transforming growth factors, tooth root, rabbits, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0042-8450; https://doaj.org/toc/2406-0720

URL الوصول: https://doaj.org/article/58a92638c2174ca995911b3b9e86cc09

المؤلفون: Filipović Gordana, Đorđević Nadica S., Stojanović Nikola M., Brkić Zlata, Igić Marija, Marjanović Dragan, Šehalić Meliha

المصدر: Vojnosanitetski Pregled, Vol 77, Iss 10, Pp 1054-1059 (2020)

مصطلحات موضوعية: adolescent, age determination by teeth, child, forensic dentistry, molar, third, radiography, dental, serbia, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0042-8450; https://doaj.org/toc/2406-0720

URL الوصول: https://doaj.org/article/1f8f25e1031348efa1145de0c1c586f8

المؤلفون: Leštarević Snežana, Mandić Predrag, Mijović Milica, Dejanović Mirjana, Marjanović Dragan, Matejić Suzana, Filipović Milan

المصدر: Praxis Medica, Vol 48, Iss 2, Pp 1-8 (2019)

مصطلحات موضوعية: elastic fibers, photo-aging, skin, Medicine

وصف الملف: electronic resource

Relation: https://scindeks-clanci.ceon.rs/data/pdf/0350-8773/2019/0350-87731902001L.pdf; https://doaj.org/toc/0350-8773; https://doaj.org/toc/2560-3310

URL الوصول: https://doaj.org/article/bc09d405810d4daeb3c6100d01f66221

المؤلفون: Staletović Danijela, Šehalić Meliha, Marjanović Dragan, Milojković Zoraida, Arsić Zoran, Staletović Miloš, Mladenović Raša

المصدر: Praxis Medica, Vol 45, Iss 2, Pp 1-5 (2016)

مصطلحات موضوعية: parodontopathy, subgingival plaque, Actinobacillus actinomycetemcomitans, PCR, Medicine

وصف الملف: electronic resource

Relation: http://scindeks-clanci.ceon.rs/data/pdf/0350-8773/2016/0350-87731602001S.pdf; https://doaj.org/toc/0350-8773

URL الوصول: https://doaj.org/article/f495744a21f5484aa68ab40c224e38ea

المؤلفون: Marjanović Dragan, Anđelković Zlatibor, Brkić Zlata, Videnović Goran, Šehalić Meliha, Matvjenko Vladimir, Leštarević Snežana, Đorđević Nadica

المصدر: Vojnosanitetski Pregled, Vol 73, Iss 5, Pp 458-462 (2016)

مصطلحات موضوعية: periodontal diseases, disease progression, mast cells, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0042-8450; https://doaj.org/toc/2406-0720

URL الوصول: https://doaj.org/article/d2c6fb5c06c4471692c293ddcd4f9776

المؤلفون: Cetica, Valentina, Pisano, Tiziana, Lesca, Gaetan, Marafi, Dana, Licchetta, Laura, Riccardi, Florence, Mei, Davide, Chung, Hon‐yin, B, Bayat, Allan, Balasubramanian, Meena, Lowenstein, Daniel, H, Endzinienė, Milda, Alotaibi, Maha, Villeneuve, Nathalie, Jacobs, Julia, Isidor, Bertrand, Solazzi, Roberta, den Hollander, Nicolette, S, Marjanovic, Dragan, Rougeot‐jung, Christelle, Jung, Julien, Lesieur‐sebellin, Marion, Accogli, Andrea, Salpietro, Vincenzo, Saadi, Nebal, W, Panagiotakaki, Eleni, Foiadelli, Thomas, Redon, Sylvia, Tsai, Meng‐han, Bisulli, Francesca, Hammer, Trine, B, Lupski, James, R, Parrini, Elena, Guerrini, Renzo

المساهمون: Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)

المصدر: ISSN: 0013-9580.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-04668694
https://hal.science/hal-04668694v1/document
https://hal.science/hal-04668694v1/file/Epilepsia%20-%202024%20-%20Cetica%20-%20Clinical%20and%20molecular%20characterization%20of%20patients%20with%20YWHAG%E2%80%90related%20epilepsy.pdf
https://doi.org/10.1111/epi.17939

المؤلفون: Gardella, Elena, Michelucci, Roberto, Christensen, Hanne M., Fenger, Christina D., Reale, Chiara, Riguzzi, Patrizia, Pasini, Elena, Albini-Riccioli, Luca, Papa, Valentina, Foschini, Maria Pia, Cenacchi, Giovanna, Furia, Francesca, Marjanovic, Dragan, Hammer, Trine B., Møller, Rikke S., Rubboli, Guido

المصدر: Gardella , E , Michelucci , R , Christensen , H M , Fenger , C D , Reale , C , Riguzzi , P , Pasini , E , Albini-Riccioli , L , Papa , V , Foschini , M P , Cenacchi , G , Furia , F , Marjanovic , D , Hammer , T B , Møller , R S & Rubboli , G 2023 , ' IRF2BPL as a novel causative gene for progressive myoclonus epilepsy ' , Epilepsia , vol. 64 , no. 8 , pp. e170-e176 . https://doi.org/10.1111/epi.17634

مصطلحات موضوعية: ataxia, cerebellar signs, IRF2BPL, neurodevelopmental disorder, progressive myoclonus epilepsy, Myoclonus, Humans, Epilepsy, Myoclonic Epilepsies, Progressive/genetics, Carrier Proteins/genetics, Epilepsies, Myoclonic/pathology, Family, Mutation, Nuclear Proteins/genetics, Child

وصف الملف: application/pdf

Relation: https://portal.findresearcher.sdu.dk/da/publications/abd8f99b-e165-4c12-ae2b-ffc8d2593655

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/abd8f99b-e165-4c12-ae2b-ffc8d2593655
https://doi.org/10.1111/epi.17634
https://findresearcher.sdu.dk/ws/files/237564946/Open_Access_Version.pdf

المؤلفون: Guerrini, Renzo, Mei, Davide, Kerti-Szigeti, Katalin, Pepe, Sara, Koenig, Mary Kay, Von Allmen, Gretchen, Cho, Megan T, McDonald, Kimberly, Baker, Janice, Bhambhani, Vikas, Powis, Zöe, Rodan, Lance, Nabbout, Rima, Barcia, Giulia, Rosenfeld, Jill A, Bacino, Carlos A, Mignot, Cyril, Power, Lillian H, Harris, Catharine J, Marjanovic, Dragan, Møller, Rikke S, Hammer, Trine B, Keski Filppula, Riikka, Vieira, Päivi, Hildebrandt, Clara, Sacharow, Stephanie, Maragliano, Luca, Benfenati, Fabio, Lachlan, Katherine, Benneche, Andreas, Petit, Florence, de Sainte Agathe, Jean-Madeleine, Hallinan, Barbara, Si, Yue, Wentzensen, Ingrid M, Zou, Fanggeng, Narayanan, Vinodh, Matsumoto, Naomichi, Boncristiano, Alessandra, la Marca, Giancarlo, Kato, Mitsuhiro, Anderson, Kristin, Barba, Carmen, Sturiale, Luisa, Garozzo, Domenico, Bei, Roberto, Masuelli, Laura, Conti, Valerio, Novarino, Gaia, Fassio, Anna

المساهمون: Guerrini, Renzo, Mei, Davide, Kerti-Szigeti, Katalin, Pepe, Sara, Koenig, Mary Kay, Von Allmen, Gretchen, Cho, Megan T, Mcdonald, Kimberly, Baker, Janice, Bhambhani, Vika, Powis, Zöe, Rodan, Lance, Nabbout, Rima, Barcia, Giulia, Rosenfeld, Jill A, Bacino, Carlos A, Mignot, Cyril, Power, Lillian H, Harris, Catharine J, Marjanovic, Dragan, Møller, Rikke S, Hammer, Trine B, Keski Filppula, Riikka, Vieira, Päivi, Hildebrandt, Clara, Sacharow, Stephanie, Maragliano, Luca, Benfenati, Fabio, Lachlan, Katherine, Benneche, Andrea, Petit, Florence, de Sainte Agathe, Jean-Madeleine, Hallinan, Barbara, Si, Yue, Wentzensen, Ingrid M, Zou, Fanggeng, Narayanan, Vinodh, Matsumoto, Naomichi, Boncristiano, Alessandra, la Marca, Giancarlo, Kato, Mitsuhiro, Anderson, Kristin, Barba, Carmen, Sturiale, Luisa, Garozzo, Domenico, Bei, Roberto, Masuelli, Laura, Conti, Valerio, Novarino, Gaia, Fassio, Anna

مصطلحات موضوعية: ATP6V1A, developmental delay, epileptic encephalopathy, lysosomal disorder, progressive brain atrophy

Relation: info:eu-repo/semantics/altIdentifier/pmid/35675510; info:eu-repo/semantics/altIdentifier/wos/WOS:000807770000001; volume:145; issue:8; firstpage:2687; lastpage:2703; numberofpages:17; journal:BRAIN; https://hdl.handle.net/11566/303452

الاتاحة: https://hdl.handle.net/11566/303452
https://doi.org/10.1093/brain/awac145

المؤلفون: Serafimovski, Saša, Krunić, Momčilo, Marjanović, Dragan

المصدر: 2022 IEEE Zooming Innovation in Consumer Technologies Conference (ZINC) ; page 242-244

الاتاحة: https://doi.org/10.1109/zinc55034.2022.9840631
http://xplorestaging.ieee.org/ielx7/9840523/9840527/09840631.pdf?arnumber=9840631

المؤلفون: Stamberger, Hannah, Crosiers, David, Balagura, Ganna, Bonardi, Claudia M, Basu, Anna, Cantalupo, Gaetano, Chiesa, Valentina, Christensen, Jakob, Dalla Bernardina, Bernardo, Ellis, Colin A, Furia, Francesca, Gardiner, Fiona, Giron, Camille, Guerrini, Renzo, Klein, Karl Martin, Korff, Christian, Krijtova, Hana, Leffner, Melanie, Lerche, Holger, Lesca, Gaetan, Lewis-Smith, David, Marini, Carla, Marjanovic, Dragan, Mazzola, Laure, McKeown Ruggiero, Sarah, Mochel, Fanny, Ramond, Francis, Reif, Philipp S, Richard-Mornas, Aurélie, Rosenow, Felix, Schropp, Christian, Thomas, Rhys H, Vignoli, Aglaia, Weber, Yvonne, Palmer, Elizabeth, Helbig, Ingo, Scheffer, Ingrid E, Striano, Pasquale, Møller, Rikke S, Gardella, Elena, Weckhuysen, Sarah

المساهمون: H. Stamberger, D. Crosier, G. Balagura, C.M. Bonardi, A. Basu, G. Cantalupo, V. Chiesa, J. Christensen, B. Dalla Bernardina, C.A. Elli, F. Furia, F. Gardiner, C. Giron, R. Guerrini, K.M. Klein, C. Korff, H. Krijtova, M. Leffner, H. Lerche, G. Lesca, D. Lewis-Smith, C. Marini, D. Marjanovic, L. Mazzola, S. McKeown Ruggiero, F. Mochel, F. Ramond, P.S. Reif, A. Richard-Morna, F. Rosenow, C. Schropp, R.H. Thoma, A. Vignoli, Y. Weber, E. Palmer, I. Helbig, I.E. Scheffer, P. Striano, R.S. Møller, E. Gardella, S. Weckhuysen

مصطلحات موضوعية: Activities of Daily Living, Adolescent, Adult, Electroencephalography, Human, Infant, Middle Aged, Mutation, Seizure, Young Adult, Epilepsy, Movement Disorder, Munc18 Proteins, Settore MED/39 - Neuropsichiatria Infantile, Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/pmid/35851549; info:eu-repo/semantics/altIdentifier/wos/WOS:000827766500016; volume:99; issue:3; firstpage:e221; lastpage:e233; numberofpages:13; journal:NEUROLOGY; https://hdl.handle.net/2434/947511; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85134852882

الاتاحة: https://hdl.handle.net/2434/947511
https://doi.org/10.1212/WNL.0000000000200715

المؤلفون: Brunklaus, Andreas, Bruenger, Tobias, Feng, Tony, Fons, Carmen, Lehikoinen, Anni, Panagiotakaki, Eleni, Vintan, Mihaela-Adela, Symonds, Joseph, Andrew, James, Arzimanoglou, Alexis, Delima, Sarah, Gallois, Julie, Hanrahan, Donncha, Lesca, Gaetan, MacLeod, Stewart, Marjanovic, Dragan, McTague, Amy, Nunez-Enamorado, Noemi, Perez-Palma, Eduardo, Scott Perry, M, Pysden, Karen, Russ-Hall, Sophie J, Scheffer, Ingrid E, Sully, Krystal, Syrbe, Steffen, Vaher, Ulvi, Velayutham, Murugan, Vogt, Julie, Weiss, Shelly, Wirrell, Elaine, Zuberi, Sameer M, Lal, Dennis, Moller, Rikke S, Mantegazza, Massimo, Cestele, Sandrine

المصدر: Brain , 145 (11) pp. 3816-3831. (2022)

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10176276/1/McTague_The%20gain%20of%20function%20SCN1A%20disorder%20spectrum_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10176276/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10176276/1/McTague_The%20gain%20of%20function%20SCN1A%20disorder%20spectrum_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10176276/

المؤلفون: Brunklaus, Andreas, Brünger, Tobias, Feng, Tony, Fons, Carmen, Lehikoinen, Anni, Panagiotakaki, Eleni, Vintan, Mihaela-Adela, Symonds, Joseph, Andrew, James, Arzimanoglou, Alexis, Delima, Sarah, Gallois, Julie, Hanrahan, Donncha, Lesca, Gaetan, MacLeod, Stewart, Marjanovic, Dragan, McTague, Amy, Nuñez-Enamorado, Noemi, Perez-Palma, Eduardo, Scott Perry, M, Pysden, Karen, Russ-Hall, Sophie J, Scheffer, Ingrid E, Sully, Krystal, Syrbe, Steffen, Vaher, Ulvi, Velayutham, Murugan, Vogt, Julie, Weiss, Shelly, Wirrell, Elaine, Zuberi, Sameer M, Lal, Dennis, Møller, Rikke S, Mantegazza, Massimo, Cestèle, Sandrine

المصدر: Brunklaus , A , Brünger , T , Feng , T , Fons , C , Lehikoinen , A , Panagiotakaki , E , Vintan , M-A , Symonds , J , Andrew , J , Arzimanoglou , A , Delima , S , Gallois , J , Hanrahan , D , Lesca , G , MacLeod , S , Marjanovic , D , McTague , A , Nuñez-Enamorado , N , Perez-Palma , E , Scott Perry , M , Pysden , K , Russ-Hall , S J , Scheffer , I E , Sully , K , ....

مصطلحات موضوعية: SCN1A, arthrogryposis, epilepsy, gain of function, movement disorder, Epilepsies, Myoclonic/drug therapy, Humans, Infant, Migraine with Aura, Movement Disorders, NAV1.1 Voltage-Gated Sodium Channel/genetics, Phenotype, Spasms, Infantile, Epilepsy/genetics, Gain of Function Mutation, Newborn

وصف الملف: application/pdf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/de8123a9-ded4-40a7-a50e-c9f736eb91d9
https://doi.org/10.1093/brain/awac210
https://findresearcher.sdu.dk/ws/files/216175270/Open_Access_Version.pdf

المؤلفون: Johannesen, Katrine M., Nikanorova, Natalya, Marjanovic, Dragan, Pavbro, Agnieszka, Larsen, Line H.G., Rubboli, Guido, Møller, Rikke S.

المصدر: Johannesen , K M , Nikanorova , N , Marjanovic , D , Pavbro , A , Larsen , L H G , Rubboli , G & Møller , R S 2020 , ' Utility of genetic testing for therapeutic decision-making in adults with epilepsy ' , Epilepsia , vol. 61 , no. 6 , pp. 1234-1239 . https://doi.org/10.1111/epi.16533

مصطلحات موضوعية: adults, gene panel, genetic testing, NGS

وصف الملف: application/pdf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/fd326b0e-a657-402b-98e5-538b4db96a03
https://doi.org/10.1111/epi.16533
https://findresearcher.sdu.dk/ws/files/170280971/epi.16533.pdf

المؤلفون: Mignot, Cyril, Mcmahon, Aoife, Bar, Claire, Campeau, Philippe, Davidson, David, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana, Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth, Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Genevieve, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan, Hagebeuk, Eveline, Hamdan, Fadi, Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphne, Marjanovic, Dragan, Metreau, Julia, Michaud, Jacques, Miller, Kathryn, Minassian, Berge, Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma, Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quélin, Chloé, Rosen, Alyssa, Roume, Joëlle, Rossignol, Elsa, Simon, Marleen, Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel, van Der Smagt, Jasper, van Hasselt, Peter, van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke, Lesca, Gaetan, Helbig, Katherine, L., Nabbout, Rima, Verbeek, Nienke, E., Depienne, Christel

المساهمون: 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), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), European Bioinformatics Institute Hinxton (EMBL-EBI), EMBL Heidelberg, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Necker - Enfants Malades AP-HP, Université Paris Descartes - Paris 5 (UPD5), CHU Sainte Justine Montréal, Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), 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), Hospices Civils de Lyon (HCL), Service de Génétique Médicale CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Service de neurologie pédiatrique CHU Necker, Centre de Psychiatrie et Neurosciences (U894), Service de biochimie et de génétique moléculaire CHU Cochin, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin AP-HP, Hôpital Cochin AP-HP, Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, The Hospital for sick children Toronto (SickKids), University of Antwerp (UA), Département de génétique médicale, maladies rares et médecine personnalisée CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Children’s Hospital of Philadelphia (CHOP), Hôpital Saint-Vincent de Paul, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes (Biosit : Biologie - Santé - Innovation Technologique), University of Southern Denmark (SDU), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), University Hospital Motol Prague, Hôpital Raymond Poincaré AP-HP, Center for Medical Genetics Ghent, Ghent University Hospital, University Medical Center Utrecht (UMCU), Institut de Pathologie et Génétique Gosselies (I.P.G.), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, CHI Créteil, Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, CHU Trousseau APHP, Université de Lyon, CHI Poissy-Saint-Germain, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Université libre de Bruxelles (ULB), Hôpital Erasme = Erasmus Hospital = Erasmus Ziekenhuis (HUB-ULB), Antwerp University Hospital Edegem (UZA), Département de génétique médicale Hôpital de la Timone - APHM, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire Rennes

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: intellectual disability, isoforms, epilepsy, X-linked inheritance, IQSEC2, [SDV]Life Sciences [q-bio], [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/30206421; PUBMED: 30206421

الاتاحة: https://hal.sorbonne-universite.fr/hal-01919142
https://hal.sorbonne-universite.fr/hal-01919142v1/document
https://hal.sorbonne-universite.fr/hal-01919142v1/file/s41436-018-0268-1.pdf
https://doi.org/10.1038/s41436-018

المؤلفون: Mignot, Cyril, McMahon, Aoife C, Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G, Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J, Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M, Hagebeuk, Eveline, Hamdan, Fadi F, Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L, Miller, Kathryn, Minassian, Berge A, Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R, Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R, Roume, Joelle, Rossignol, Elsa, Simon, Marleen E H, Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P, van der Smagt, Jasper J, van Hasselt, Peter M, van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S, Lesca, Gaetan, Helbig, Katherine L, Nabbout, Rima, Verbeek, Nienke E, Depienne, Christel

المصدر: Mignot , C , McMahon , A C , Bar , C , Campeau , P M , Davidson , C , Buratti , J , Nava , C , Jacquemont , M-L , Tallot , M , Milh , M , Edery , P , Marzin , P , Barcia , G , Barnerias , C , Besmond , C , Bienvenu , T , Bruel , A-L , Brunga , L , Ceulemans , B , Coubes , C , Cristancho , A G , Cunningham , F , Dehouck , M-B , Donner , E J ....

مصطلحات موضوعية: IQSEC2, X-linked inheritance, epilepsy, intellectual disability, isoforms

وصف الملف: application/pdf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/99568c53-22bf-4367-bba1-87159f85be64
https://doi.org/10.1038/s41436-018-0268-1
https://findresearcher.sdu.dk/ws/files/149064913/IQSEC2_related_encephalopathy_in_males_and_females.pdf

المؤلفون: Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M., Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E.H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., Depienne, Christel

المصدر: Mignot , C , McMahon , A C , Bar , C , Campeau , P M , Davidson , C , Buratti , J , Nava , C , Jacquemont , M L , Tallot , M , Milh , M , Edery , P , Marzin , P , Barcia , G , Barnerias , C , Besmond , C , Bienvenu , T , Bruel , A L , Brunga , L , Ceulemans , B , Coubes , C , Cristancho , A G , Cunningham , F , Dehouck , M B , Donner ....

Relation: https://portal.findresearcher.sdu.dk/da/publications/8d5d26bf-dae3-42ea-9734-c876adb49ffa

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/8d5d26bf-dae3-42ea-9734-c876adb49ffa
https://doi.org/10.1038/s41436-018-0327-7