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

Uncommon MET mutational landscape in a non-small cell lung cancer patient treated with crizotinib: Case report

克唑替尼治疗非小细胞肺癌患者中罕见的MET突变图谱:病例报告

Geier, Margaux; Nguyen, Jessica; Dhamelincourt, Estelle; Babey, Hélène; Descourt, Renaud; Quéré, Gilles; Robinet, Gilles; Lucia, François; Pacault, Mathilde

Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis

对欧洲红细胞增多症患者群体中发现的 EGLN1/PHD2 基因遗传变异进行表征

Delamare, Marine; Le Roy, Amandine; Pacault, Mathilde; Schmitt, Loïc; Garrec, Céline; Maaziz, Nada; Myllykoski, Matti; Rimbert, Antoine; Karaghiannis, Valéna; Aral, Bernard; Catherwood, Mark; Airaud, Fabrice; Mansour-Hendili, Lamisse; Hoogewijs, David; Peroni, Edoardo; Idriss, Salam; Lesieur, Valentine; Caillaud, Amandine; Si-Tayeb, Karim; Chariau, Caroline; Gaignerie, Anne; Rab, Minke; Haferlach, Torsten; Meggendorfer, Manja; Bézieau, Stéphane; Benetti, Andrea; Casadevall, Nicole; Hirsch, Pierre; Rose, Christian; Wemeau, Mathieu; Galacteros, Frédéric; Cassinat, Bruno; Bellosillo, Beatriz; Bento, Celeste; Van Wijk, Richard; Petrides, Petro E; Randi, Maria Luigia; McMullin, Mary Frances; Koivunen, Peppi; Girodon, François; Gardie, Betty

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

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome

EBP基因中一种新的剪接致病变异导致Conradi-Hünermann-Happle综合征的家族性变异极大

Pacault, Mathilde; Vincent, Marie; Besnard, Thomas; Kannengiesser, Caroline; Bénéteau, Claire; Barbarot, Sébastien; Latypova, Xénia; Belabbas, Khaldia; Lamazière, Antonin; Winer, Norbert; Joubert, Madeleine; Bézieau, Stéphane; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Leclerc-Mercier, Stéphanie; Hadj-Rabia, Smail; Dufernez, Fabienne

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

蛋白酶体调节亚基PSMD12的从头破坏导致一种综合征性神经发育障碍

Sébastien Küry ,Thomas Besnard ,Frédéric Ebstein ,Tahir N Khan ,Tomasz Gambin ,Jessica Douglas ,Carlos A Bacino ,William J Craigen ,Stephan J Sanders ,Andrea Lehmann ,Xénia Latypova ,Kamal Khan ,Mathilde Pacault ,Stephanie Sacharow ,Kimberly Glaser ,Eric Bieth ,Laurence Perrin-Sabourin ,Marie-Line Jacquemont ,Megan T Cho ,Elizabeth Roeder ,Anne-Sophie Denommé-Pichon ,Kristin G Monaghan ,Bo Yuan ,Fan Xia ,Sylvain Simon ,Dominique Bonneau ,Philippe Parent ,Brigitte Gilbert-Dussardier ,Sylvie Odent ,Annick Toutain ,Laurent Pasquier ,Deborah Barbouth ,Chad A Shaw ,Ankita Patel ,Janice L Smith ,Weimin Bi ,Sébastien Schmitt ,Wallid Deb ,Mathilde Nizon ,Sandra Mercier ,Marie Vincent ,Caroline Rooryck ,Valérie Malan ,Ignacio Briceño ,Alberto Gómez ,Kimberly M Nugent ,James B Gibson ,Benjamin Cogné ,James R Lupski ,Holly A F Stessman ,Evan E Eichler ,Kyle Retterer ,Yaping Yang ,Richard Redon ,Nicholas Katsanis ,Jill A Rosenfeld ,Peter-Michael Kloetzel ,Christelle Golzio ,Stéphane Bézieau ,Paweł Stankiewicz ,Bertrand Isidor

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

蛋白酶体调节亚基PSMD12的从头破坏导致一种综合征性神经发育障碍

Küry, Sébastien; Besnard, Thomas; Ebstein, Frédéric; Khan, Tahir N; Gambin, Tomasz; Douglas, Jessica; Bacino, Carlos A; Craigen, William J; Sanders, Stephan J; Lehmann, Andrea; Latypova, Xénia; Khan, Kamal; Pacault, Mathilde; Sacharow, Stephanie; Glaser, Kimberly; Bieth, Eric; Perrin-Sabourin, Laurence; Jacquemont, Marie-Line; Cho, Megan T; Roeder, Elizabeth; Denommé-Pichon, Anne-Sophie; Monaghan, Kristin G; Yuan, Bo; Xia, Fan; Simon, Sylvain; Bonneau, Dominique; Parent, Philippe; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Toutain, Annick; Pasquier, Laurent; Barbouth, Deborah; Shaw, Chad A; Patel, Ankita; Smith, Janice L; Bi, Weimin; Schmitt, Sébastien; Deb, Wallid; Nizon, Mathilde; Mercier, Sandra; Vincent, Marie; Rooryck, Caroline; Malan, Valérie; Briceño, Ignacio; Gómez, Alberto; Nugent, Kimberly M; Gibson, James B; Cogné, Benjamin; Lupski, James R; Stessman, Holly A F; Eichler, Evan E; Retterer, Kyle; Yang, Yaping; Redon, Richard; Katsanis, Nicholas; Rosenfeld, Jill A; Kloetzel, Peter-Michael; Golzio, Christelle; Bézieau, Stéphane; Stankiewicz, Paweł; Isidor, Bertrand

Pain after total hip arthroplasty: a psychiatric point of view

全髋关节置换术后疼痛:精神病学视角

Pacault-Legendre, V; Anract, P; Mathieu, M; Courpied, J P

Survey of patient satisfaction after total arthroplasty of the hip

髋关节全置换术后患者满意度调查

Pacault-Legendre, V; Courpied, J P