المؤلفون: Atteeq Rehman, Amanda Thomas-Wilson, Frederic Tran Mau-Them, Leandra Tolusso, Avinash Abyankar, Saurav Guha, Volkan Okur, Vanessa Felice, Robert Hopkin, Ashley Wilson, Ted Han, Qiaoning Guan, Jessica Giordano, Anne-Claire Bréhin, Ronald Wapner, Vaidehi Jobanputra

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101672- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424008185Test; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/b54e5dd456704f24879c40fac9d912e1Test

المؤلفون: Yosuke Nishio, Kohji Kato, Frederic Tran Mau-Them, Hiroshi Futagawa, Chloé Quélin, Saori Masuda, Antonio Vitobello, Shiomi Otsuji, Hossam H. Shawki, Hisashi Oishi, Christel Thauvin-Robinet, Toshiki Takenouchi, Kenjiro Kosaki, Yoshiyuki Takahashi, Shinji Saitoh

المصدر: HGG Advances, Vol 4, Iss 4, Pp 100238- (2023)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247723000702Test; https://doaj.org/toc/2666-2477Test

الوصول الحر: https://doaj.org/article/500afd5a9bde413c8c9a8ccf0d6652d9Test

المؤلفون: Elena Longobardi, Francesco Miceli, Agnese Secondo, Rita Cicatiello, Antonella Izzo, Nadia Tinto, Sebastien Moutton, Frédéric Tran Mau-Them, Antonio Vitobello, Maurizio Taglialatela

المصدر: Stem Cell Research, Vol 53, Iss , Pp 102311- (2021)

مصطلحات موضوعية: Biology (General), QH301-705.5

العلاقة: http://www.sciencedirect.com/science/article/pii/S1873506121001574Test; https://doaj.org/toc/1873-5061Test; https://doaj.org/article/93963da4c1d646249d0cb4f2945f3f7fTest

الإتاحة: https://doi.org/10.1016/j.scr.2021.102311Test
https://doaj.org/article/93963da4c1d646249d0cb4f2945f3f7fTest

المؤلفون: Julian Delanne, Ange-Line Bruel, Frédéric Huet, Sébastien Moutton, Sophie Nambot, Margot Grisval, Nada Houcinat, Paul Kuentz, Arthur Sorlin, Patrick Callier, Nolwenn Jean-Marcais, Anne-Laure Mosca-Boidron, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Daphné Lehalle, Salima El Chehadeh, Christine Francannet, Marine Lebrun, Laetitia Lambert, Marie-Line Jacquemont, Marion Gerard-Blanluet, Jean-Luc Alessandri, Marjolaine Willems, Julien Thevenon, Mondher Chouchane, Véronique Darmency, Clémence Fatus-Fauconnier, Sébastien Gay, Marie Bournez, Alice Masurel, Vanessa Leguy, Yannis Duffourd, Christophe Philippe, François Feillet, Laurence Faivre, Christel Thauvin-Robinet

المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100812- (2021)

مصطلحات موضوعية: Inherited metabolic disorders, Exome sequencing, Intellectual disability, Developmental delay, Genotype first, Medicine (General), R5-920, Biology (General), QH301-705.5

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426921001075Test; https://doaj.org/toc/2214-4269Test; https://doaj.org/article/6b43835fd34647d4a03a8cc096c8582eTest

الإتاحة: https://doi.org/10.1016/j.ymgmr.2021.100812Test
https://doaj.org/article/6b43835fd34647d4a03a8cc096c8582eTest