المؤلفون: Kacher, Radhia, Lejeune, François-Xavier, David, Isabelle, Boluda, Susana, Coarelli, Giulia, Leclere-Turbant, Sabrina, Heinzmann, Anna, Marelli, Cecilia, Charles, Perrine, Goizet, Cyril, Kabir, Nisha, Hilab, Rania, Jornea, Ludmila, Six, Julie, Dommergues, Marc, Fauret, Anne-Laure, Brice, Alexis, Humbert, Sandrine, Durr, Alexandra

المساهمون: National Institutes of Health, National Cancer Institute, National Institute on Drug Abuse, National Heart, Lung, and Blood Institute, National Institute of Mental Health, National Human Genome Research Institute, National Institute of Neurological Disorders and Stroke

المصدر: The American Journal of Human Genetics ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2024.03.015Test
https://api.elsevier.com/content/article/PII:S0002929724000880?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929724000880?httpAccept=text/plainTest

المؤلفون: Barbier, Mathieu, Davoine, Claire-Sophie, Petit, Emilien, Porché, Maximilien, Guillot-Noel, Léna, Sayah, Sabrina, Fauret, Anne-Laure, Neau, Jean-Philippe, Guyant-Maréchal, Lucie, Deffond, Didier, Tranchant, Christine, Goizet, Cyril, Coarelli, Giulia, Castrioto, Anna, Klebe, Stephan, Ewenczyk, Claire, Heinzmann, Anna, Charles, Perrine, Tchikviladzé, Maya, Van Broeckhoven, Christine, Brice, Alexis, Durr, Alexandra

المصدر: Genetics in Medicine ; volume 25, issue 2, page 100327 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.10.009Test
https://api.elsevier.com/content/article/PII:S1098360022009959?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022009959?httpAccept=text/plainTest

المؤلفون: Barbier, Mathieu, Davoine, Claire-Sophie, Petit, Emilien, Porche, Maximilien, Guillot-Noel, Léna, Sayah, Sabrina, Fauret, Anne-Laure, Neau, Jean-Philippe, Guyant- Marechal, Lucie, Deffond, Didier, Tranchant, Christine, Goizet, Cyril, Coarelli, Giulia, Castrioto, Anna, Klebe, Stephan, Ewenczyk, Claire, Heinzmann, Anna, Charles, Perrine, Tchikviladzé, Maya, van Broeckhoven, Christine, Brice, Alexis, Durr, Alexandra, Durr, Pr, Alexandra

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)

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics ; https://hal.sorbonne-universite.fr/hal-03997720Test ; Genetics in medicine : official journal of the American College of Medical Genetics, 2022, ⟨10.1016/j.gim.2022.10.009.⟩

مصطلحات موضوعية: SCA48 SCA17 TBP STUB1 spinocerebellar ataxia cognitive impairment, SCA48, SCA17, TBP, STUB1, spinocerebellar ataxia, cognitive impairment, [SDV]Life Sciences [q-bio]

العلاقة: hal-03997720; https://hal.sorbonne-universite.fr/hal-03997720Test; https://hal.sorbonne-universite.fr/hal-03997720/documentTest; https://hal.sorbonne-universite.fr/hal-03997720/file/manuscript_HAL.pdfTest

الإتاحة: https://doi.org/10.1016/j.gim.2022.10.00910.1016/j.gim.2022.10.009Test.
https://hal.sorbonne-universite.fr/hal-03997720Test
https://hal.sorbonne-universite.fr/hal-03997720/documentTest
https://hal.sorbonne-universite.fr/hal-03997720/file/manuscript_HAL.pdfTest

المؤلفون: Rucheton, Benoit, Ewenczyk, Claire, Gaignard, Pauline, de Sainte Agathe, Jean-Madeleine, Fauret, Anne-Laure, Saillour, Virginie, Leonard-Louis, Sarah, Touitou, Valerie, Mochel, Fanny

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), Néphrologie CHU Bicêtre, Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: EISSN: 2376-7839 ; Neurology Genetics ; https://hal.sorbonne-universite.fr/hal-03426463Test ; Neurology Genetics, 2021, 7 (6), pp.e630. ⟨10.1212/nxg.0000000000000630⟩

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics

العلاقة: hal-03426463; https://hal.sorbonne-universite.fr/hal-03426463Test; https://hal.sorbonne-universite.fr/hal-03426463/documentTest; https://hal.sorbonne-universite.fr/hal-03426463/file/e630.full.pdfTest

الإتاحة: https://doi.org/10.1212/nxg.0000000000000630Test
https://hal.sorbonne-universite.fr/hal-03426463Test
https://hal.sorbonne-universite.fr/hal-03426463/documentTest
https://hal.sorbonne-universite.fr/hal-03426463/file/e630.full.pdfTest

المؤلفون: Beltrand, Jacques, Busiah, Kanetee, Vaivre-Douret, Laurence, Fauret, Anne Laure, Berdugo, Marianne, Cavé, Hélène, Polak, Michel

المصدر: Frontiers in Pediatrics ; volume 8 ; ISSN 2296-2360

الإتاحة: https://doi.org/10.3389/fped.2020.540718Test

المؤلفون: Bowman, Pamela, Sulen, Åsta, Barbetti, Fabrizio, Beltrand, Jacques, Svalastoga, Pernille, Codner, Ethel, Tessmann, Ellen H, Juliusson, Petur B, Skrivarhaug, Torild, Pearson, Ewan R, Flanagan, Sarah E, Babiker, Tarig, Thomas, Nicholas J, Shepherd, Maggie H, Ellard, Sian, Klimes, Iwar, Szopa, Magdalena, Polak, Michel, Iafusco, Dario, Hattersley, Andrew T, Njølstad, Pål R, Aisenberg, Javier, Akkurt, Ilker, Abdul-Latif, Hussein, Al-Abdullah, Anees, Barak, Lubomir, Van Den Bergh, Joop, Bertrand, Anne-Marie, Bizzarri, Carla, Bonfanti, Riccardo, Bruel, Henri, Burrows, Anthony, Cadario, Francesco, Cameron, Fergus J., Carson, Dennis, Cartigny, Maryse, Cauvin, Vittoria, Cave, Helene, Chakera, Ali, Chetan, Ravi, Chiari, Giovanni, Couch, Bob, Coutant, Régis, Cummings, Elizabeth, Dankovcikova, Adriana, Davis, Liz, Deiss, Dorothee, Delvecchio, Maurizio, Faleschini, Elena, Fauret, Anne-Laure

المصدر: The Lancet Diabetes & Endocrinology ; volume 6, issue 8, page 637-646 ; ISSN 2213-8587

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

الإتاحة: https://doi.org/10.1016/s2213-8587Test(18)30106-2
https://api.elsevier.com/content/article/PII:S2213858718301062?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2213858718301062?httpAccept=text/plainTest

المؤلفون: Frank, Michael, Albuisson, Juliette, Ranque, Brigitte, Golmard, Lisa, Mazzella, Jean-Michael, Bal-Theoleyre, Laurence, Fauret, Anne-Laure, Mirault, Tristan, Denarié, Nicolas, Mousseaux, Elie, Boutouyrie, Pierre, Fiessinger, Jean-Noël, Emmerich, Joseph, Messas, Emmanuel, Jeunemaitre, Xavier

المصدر: European Journal of Human Genetics ; volume 23, issue 12, page 1657-1664 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2015.32Test
http://www.nature.com/articles/ejhg201532.pdfTest
http://www.nature.com/articles/ejhg201532Test

المؤلفون: Zuily, Stéphane, Angioi, Karine, Fauret, Anne-Laure, Golmard, Lisa, Saadi, Leïlah, Huttin, Olivier, Anxionnat, René, Evon, Philippe, Marie, Pierre-Yves, Jeunemaitre, Xavier, Wahl, Denis

المصدر: Journal of the American College of Cardiology ; volume 59, issue 22, page 1991 ; ISSN 0735-1097

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الإتاحة: https://doi.org/10.1016/j.jacc.2011.11.067Test
https://api.elsevier.com/content/article/PII:S0735109712009862?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0735109712009862?httpAccept=text/plainTest

المؤلفون: Beltrand, Jacques, Busiah, Kanetee, Vaivre-Douret, Laurence, Fauret, Anne-Laure, Scharfmann, Raphael, Cavé, Hélène, Polak, Michel

المصدر: Bases Scientifiques en Néonatologie ; page 463-476

الإتاحة: https://doi.org/10.1016/b978-2-294-73742-8.00035-2Test
https://api.elsevier.com/content/article/PII:B9782294737428000352?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B9782294737428000352?httpAccept=text/plainTest

المؤلفون: Bowman, Pamela, Sulen, Åsta, Barbetti, Fabrizio, Beltrand, Jacques, Svalastoga, Pernille, Codner, Ethel, Tessmann, Ellen H, Juliusson, Petur B, Skrivarhaug, Torild, Pearson, Ewan R, Flanagan, Sarah E, Babiker, Tarig, Thomas, Nicholas J, Shepherd, Maggie H, Ellard, Sian, Klimes, Iwar, Szopa, Magdalena, Polak, Michel, Iafusco, Dario, Hattersley, Andrew T, Njølstad, Pål R, Aisenberg, Javier, Akkurt, Ilker, Abdul-Latif, Hussein, Al-Abdullah, Anees, Barak, Lubomir, Van Den Bergh, Joop, Bertrand, Anne-Marie, Bizzarri, Carla, Bonfanti, Riccardo, Bruel, Henri, Burrows, Anthony, Cadario, Francesco, Cameron, Fergus J., Carson, Dennis, Cartigny, Maryse, Cauvin, Vittoria, Cave, Helene, Chakera, Ali, Chetan, Ravi, Chiari, Giovanni, Couch, Bob, Coutant, Régis, Cummings, Elizabeth, Dankovcikova, Adriana, Davis, Liz, Deiss, Dorothee, Delvecchio, Maurizio, Faleschini, Elena, Fauret, Anne-Laure, Finn, Roisin, Ford, Tamsin, Franco, Elisa De, Gallen, Bastian De, Gasperíková, Daniela, Guntamukkala, Padma, Hakeem, Vaseem, Hasegawa, Shinji, Hathout, Eba H., Heffernan, Emmeline, Hill, David, Ho, Josephine, Hoarau, Marie, Holl, Reinhard, Hoddinott, Rebecca, Houghton, Jane, Howard, Neville, Hughes, Natalie, Hunter, Ian, Høgåsen, Anne Kirsti, Kuulasmaa, Helena, Ioacara, Sorin, Iotova, Violeta, Irgens, Henrik, Jaap, Alan, Jones, Kenneth, Kapellen, Thomas, Kaufman, Ellen, Klinge, Andreas, Klupa, Tomasz, Krishnaswamy, Ramaiyer, Lafferty, Tony, LeGault, Laurent, Lambert, Paul, Malecki, Maciej T, Malievsky, Olag, Mathew, Revi, Mathews, Frances, McVie, Robert, Menzel, Ulrike, Metz, Chantale, Meulen, John Van Der, Modgil, Gita, Mul, Dick, Muther, Silvia, Nuboer, Roos, O'Connell, Susan M., O'Riordan, Stephen, Palko, Miroslav, Patel, Kashyap Amratlal, Pesavento, Roberta, Piccinno, Elvira, Pillai, Janani Kumaraguru, Pruhova, Stephanka, Punthakee, Zubin, Rabbone, Ivana, Raile, Klemens, Rincon, Marielisa, Rose, Danette, Sanchez, Janine, Sandereson, Susan, Saxena, Vinay, Schebek, Martin, Schmidt, Dorothee, Shehadeh, Naim, Shiels, Julian P.H., Silva, Jose M. C. L, Stanik, Juraj, Tinklin, Tracy, Tjora, Erling, Tumini, Stefano, Tuomi, Tiinamaija, Uehara, Akiko, Velde, Robert Van der, Vermeulen, Guido, Visser, Uma, Voorhoeve, Paul, Walker, Jan, Weill, Jaques, Weisner, Tobias, Werner, Andrea, Williams, Toni, Woodhead, Helen, øddegård, Rønnaug

المصدر: The Lancet Diabetes & Endocrinology; August 2018, Vol. 6 Issue: 8 p637-646, 10p