日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing

先天性甲状腺功能减退症伴原位腺体的严重程度可预测靶向二代测序的分子产量

Levaillant, Lucie; Bouhours-Nouet, Natacha; Illouz, Frédéric; Amsellem Jager, Jessica; Bachelot, Anne; Barat, Pascal; Baron, Sabine; Bensignor, Candace; Brac De La Perriere, Aude; Braik Djellas, Yasmine; Caillot, Morgane; Caldagues, Emmanuelle; Campas, Marie-Neige; Caquard, Marylène; Cartault, Audrey; Cheignon, Julie; Decrequy, Anne; Delemer, Brigitte; Dieckmann, Katherine; Donzeau, Aurélie; Doye, Emilie; Fradin, Mélanie; Gaudillière, Mélanie; Gatelais, Frédérique; Gorce, Magali; Hazart, Isabelle; Houcinat, Nada; Houdon, Laure; Ister-Salome, Marielle; Jozwiak, Lucie; Jeannoel, Patrick; Labarthe, Francois; Lacombe, Didier; Lambert, Anne-Sophie; Lefevre, Christine; Leheup, Bruno; Leroy, Clara; Maisonneuve, Benedicte; Marchand, Isis; Marquant, Emeline; Muszlak, Matthias; Pantalone, Letitia; Pochelu, Sandra; Quelin, Chloé; Radet, Catherine; Renoult-Pierre, Peggy; Reynaud, Rachel; Rouleau, Stéphanie; Teinturier, Cécile; Thevenon, Julien; Turlotte, Caroline; Valle, Aline; Vierge, Melody; Villanueva, Carine; Ziegler, Alban; Dieu, Xavier; Bouzamondo, Nathalie; Rodien, Patrice; Prunier-Mirebeau, Delphine; Coutant, Régis

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

在一项包含547名发育障碍患者的队列研究中,通过外显子组测序诊断遗传性代谢疾病的诊断率

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

Leiomyosarcoma: a rare presentation as multifocal lesion

平滑肌肉瘤:罕见的多灶性病变表现

Aftan, Mohanad Kareem; Alfalahi, Afra; Alzeena, Ethar; Albastaki, Usama; Houcinat, Yamina; Mahmoud, Khalid

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

溶酶体信号通过 Tfe3 失活促进胚胎干细胞分化

Florian Villegas, Daphné Lehalle, Daniela Mayer, Melanie Rittirsch, Michael B Stadler, Marietta Zinner, Daniel Olivieri, Pierre Vabres, Laurence Duplomb-Jego, Eveline S J M De Bont, Yannis Duffourd, Floor Duijkers, Magali Avila, David Geneviève, Nada Houcinat, Thibaud Jouan, Paul Kuentz, Klaske D Li

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

NBEA:一种与早期全身性癫痫表型相关的发育性疾病基因

Mulhern, Maureen S; Stumpel, Constance; Stong, Nicholas; Brunner, Han G; Bier, Louise; Lippa, Natalie; Riviello, James; Rouhl, Rob P W; Kempers, Marlies; Pfundt, Rolph; Stegmann, Alexander P A; Kukolich, Mary K; Telegrafi, Aida; Lehman, Anna; Lopez-Rangel, Elena; Houcinat, Nada; Barth, Magalie; den Hollander, Nicolette; Hoffer, Mariette J V; Weckhuysen, Sarah; Roovers, Jolien; Djemie, Tania; Barca, Diana; Ceulemans, Berten; Craiu, Dana; Lemke, Johannes R; Korff, Christian; Mefford, Heather C; Meyers, Candace T; Siegler, Zsuzsanna; Hiatt, Susan M; Cooper, Gregory M; Bebin, E Martina; Snijders Blok, Lot; Veenstra-Knol, Hermine E; Baugh, Evan H; Brilstra, Eva H; Volker-Touw, Catharina M L; van Binsbergen, Ellen; Revah-Politi, Anya; Pereira, Elaine; McBrian, Danielle; Pacault, Mathilde; Isidor, Bertrand; Le Caignec, Cedric; Gilbert-Dussardier, Brigitte; Bilan, Frederic; Heinzen, Erin L; Goldstein, David B; Stevens, Servi J C; Sands, Tristan T

Adrenocortical Oncocytic Carcinoma and Papillary Thyroid Carcinoma Incidentally Detected in an Asymptomatic Patient by F-18 FDG PET/CT

F-18 FDG PET/CT 在一名无症状患者中偶然发现肾上腺皮质嗜酸性细胞癌和乳头状甲状腺癌

Al Balooshi, Batool; Miyanath, Shabna; Elhennawy, Amr; Saeedi, Yaser; Tirmazy, Syed Hammad; Muhasin, Muhammed; Ray, Bhavna; Al Sharhan, Mouza; Hotait, Hassan; Houcinat, Yamina; Keloth, Tasnim