Works matching DE "GENETIC mutation"
1
- Hormone Research in Paediatrics, 2025, v. 98, n. 3, p. 274, doi. 10.1159/000538388
- Tanaka, Hiroyuki;
- Tamura, Mayuko;
- Muto, Mirai;
- Kinoshita, Yuka;
- Ito, Nobuaki;
- Oka, Akira;
- Kitanaka, Sachiko
- Article
2
- Hormone Research in Paediatrics, 2025, v. 98, n. 3, p. 282, doi. 10.1159/000536621
- Pugnaloni, Flaminia;
- Martini, Ludovica;
- De Rose, Domenico Umberto;
- Landolfo, Francesca;
- Giliberti, Paola;
- Ruta, Rosario;
- Novelli, Antonio;
- Rapini, Novella;
- Barbetti, Fabrizio;
- Toscano, Alessandra;
- Conforti, Andrea;
- Bagolan, Pietro;
- Capolupo, Irma;
- Dotta, Andrea
- Article
3
- Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00315-1
- Kobayashi, Yuki;
- Adachi, Takeya;
- Tahara, Umi;
- Tanaka, Moemi;
- Arakawa, Hiroki;
- Funatsu, Yohei;
- Moritani, Kazunori;
- Yamada, Mamiko;
- Kosaki, Kenjiro;
- Inazumi, Toyoko
- Article
4
- Current Allergy & Clinical Immunology, 2025, v. 38, n. 2, p. 118
- van den Berg, Sylvia;
- Brauer, Marieke;
- van Niekerk, André
- Article
5
- Fetal Diagnosis & Therapy, 2025, v. 52, n. 3, p. 280, doi. 10.1159/000543190
- Charach, Ron;
- Pérez-Cruz, Míriam;
- Masoller, Narcis;
- Illa, Míriam;
- Monterde, Elena;
- Martínez-Crespo, Josep Maria;
- Borrell, Antoni;
- Gómez-Chiari, Marta;
- Rebollo-Polo, Mónica;
- Borregan, Mar;
- Gómez, Olga;
- Eixarch, Elisenda
- Article
6
- eLife, 2025, p. 1, doi. 10.7554/eLife.99275
- Belato, Helen B.;
- Knight, Alexa L.;
- D'Ordine, Alexandra M.;
- Pindi, Chinmai;
- Zhiqiang Fan;
- Jinping Luo;
- Palermo, Giulia;
- Jogl, Gerwald;
- Lisi, George P.
- Article
7
- Archives of Pathology & Laboratory Medicine, 2025, v. 149, n. 6, p. 561, doi. 10.5858/arpa.2024-0137-OA
- Reika Takamatsu;
- Kohei Nakamura;
- Tatsuyuki Chiyoda;
- Kosuke Tsuji;
- Ryutaro Kawano;
- Naoki Yoshimi;
- Wataru Yamagami;
- Hiroshi Nishihara
- Article
8
- Archives of Pathology & Laboratory Medicine, 2025, v. 149, n. 6, p. 542, doi. 10.5858/arpa.2024-0014-OA
- Zhenhao Qi;
- Ha, Thomas;
- Wenqin Feng;
- Karnoub, Maha;
- Pereira, Kaline;
- Ryota Shiga;
- Smit, Egbert F.;
- Yasushi Goto;
- De Langen, Adrianus Johannes;
- Koichi Goto;
- Velasco Roth, Anne Marie;
- Khambata-Ford, Shirin
- Article
9
- Rheumatology, 2025, v. 64, n. 6, p. 3747, doi. 10.1093/rheumatology/keaf094
- García-Escudero, Paula;
- López-Gómez, Marta;
- López, Berta Magallares;
- Dorta, Alicia García;
- Frade-Sosa, Beatriz;
- Lizarzaburu, Meritxell Sallés;
- Rúa-Figueroa, Íñigo;
- Fiallo, Dolly Viviana;
- Miera, Francisco Javier Toyos Sáenz de;
- Melero-Gonzalez, Rafael Benito;
- Santos, Diego Dios;
- Miranda, José Alberto;
- Belando, Clara García;
- Boselli, Giuliano;
- Boteanu, Alina Lucica;
- Villalobos, Lourdes;
- Selaya, Cristina Corrales;
- Santos, Cristiana Sieiro;
- Álvarez, Elvira Díez;
- Font, Judit
- Article
10
- Rheumatology, 2025, v. 64, n. 6, p. 4091, doi. 10.1093/rheumatology/keae619
- Lacombe, Valentin;
- Echerbault, Robin;
- Bourguiba, Rim;
- Georgin-Lavialle, Sophie
- Article
11
- 2025
- Letter to the Editor
12
- Rheumatology, 2025, v. 64, n. 6, p. 3889, doi. 10.1093/rheumatology/keae550
- Sullivan, Megan M;
- Mead-Harvey, Carolyn;
- Sartori-Valinotti, Julio C;
- Kalantari, Kambiz;
- Kusne, Yael N;
- Patnaik, Mrinal M;
- Mangaonkar, Abhishek A;
- Go, Ronald S;
- Montes, Daniel;
- Reichard, Kaaren K;
- Olteanu, Horatiu;
- Bois, Melanie C;
- Hines, Alexander S;
- Warrington, Kenneth J;
- Koster, Matthew J
- Article
13
- Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00315-1
- Kobayashi, Yuki;
- Adachi, Takeya;
- Tahara, Umi;
- Tanaka, Moemi;
- Arakawa, Hiroki;
- Funatsu, Yohei;
- Moritani, Kazunori;
- Yamada, Mamiko;
- Kosaki, Kenjiro;
- Inazumi, Toyoko
- Article
14
- Clinical Autonomic Research, 2025, v. 35, n. 3, p. 407, doi. 10.1007/s10286-024-01104-6
- Carricarte Naranjo, Claudia;
- Marras, Connie;
- Visanji, Naomi P.;
- Cornforth, David J.;
- Sanchez‑Rodriguez, Lazaro;
- Schüle, Birgitt;
- Goldman, Samuel M.;
- Estévez, Mario;
- Stein, Phyllis K.;
- Jelinek, Herbert F.;
- Lang, Anthony E.;
- Machado, Andrés
- Article
15
- BJU International, 2025, v. 135, n. 5, p. 792, doi. 10.1111/bju.16620
- Axelsson, Tomas Andri;
- Sydén, Filip;
- Eisfeldt, Jesper;
- Eriksson, Ylva;
- Lundberg, Gustav Göthner;
- Jaremko, Georg;
- Gyllensten, Ollanta Cuba;
- Tham, Emma;
- Brehmer, Marianne
- Article
16
- BioEssays, 2025, v. 47, n. 4, p. 1, doi. 10.1002/bies.202400281
- Article
17
- Clinical Infectious Diseases, 2025, v. 80, n. 5, p. 984, doi. 10.1093/cid/ciaf028
- Redmond, Sarah N;
- Cadnum, Jennifer L;
- Jencson, Annette L;
- Kaple, Claire E;
- Wilson, Brigid M;
- Skinner, Andrew M;
- Gargis, Amy S;
- Hwang, Munok;
- Choi, Hosoon;
- Chatterjee, Piyali;
- Jinadatha, Chetan;
- Donskey, Curtis J
- Article
18
- Clinical Infectious Diseases, 2025, v. 80, n. 5, p. 1060, doi. 10.1093/cid/ciae657
- Pesonel, Elise;
- Laouénan, Cédric;
- Guiraud, Laetitia;
- Bourner, Josephine;
- Hoffmann, Isabelle;
- Molino, Diana;
- Tardivon, Coralie;
- Bachelet, Delphine;
- Mentré, France;
- Amstutz, Alain;
- Merson, Laura;
- Rojek, Amanda;
- Gonzalez, Minerva Cervantes;
- Antinori, Andrea;
- Castagna, Antonella;
- Nozza, Silvia;
- Pourcher, Valérie;
- Libois, Agnès;
- Dunning, Jake;
- Tacconelli, Evelina
- Article
19
- European Journal of Endocrinology, 2025, v. 192, n. 5, p. K38, doi. 10.1093/ejendo/lvaf094
- Helvacioglu, Didem;
- Canbaz, Aylin Tugba;
- Tekmenuray-Unal, Aysel;
- Ada, Yasin;
- Yapici, Ozge;
- Genc, Emine;
- Kilavuz, Sebile;
- Tosun, Busra Gurpinar;
- Hismi, Burcu Ozturk;
- Guran, Tulay
- Article
20
- European Journal of Endocrinology, 2025, v. 192, n. 5, p. K31, doi. 10.1093/ejendo/lvaf089
- Kelestemur, Elif;
- Yarar, Murat Hakki;
- Tosun, Busra Gurpinar;
- Karaca, Meryem;
- Goler, Ayse Mine Yilmaz;
- Yilmaz, Betul Karademir;
- Yapici, Ozge;
- Gokcay, Gulden;
- Guran, Tulay
- Article
21
- European Journal of Endocrinology, 2025, v. 192, n. 5, p. R1, doi. 10.1093/ejendo/lvaf088
- Suntornlohanakul, Onnicha;
- Ronchi, Cristina L;
- Arlt, Wiebke;
- Prete, Alessandro
- Article
22
- European Journal of Endocrinology, 2025, v. 192, n. 5, p. 590, doi. 10.1093/ejendo/lvaf086
- Mohan, Dipika R;
- Paes, Ticiana;
- Mebarak, Jacobo Buelvas;
- Meredith, David M;
- Soares, Beatriz;
- Vaz, Victor;
- Carroll, Rona S;
- Kaiser, Ursula B;
- Smith, Timothy R;
- Bi, Wenya L;
- Lerario, Antonio M;
- Abreu, Ana Paula
- Article
23
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03803-3
- Yuan, Pubing;
- Huang, Yonghua;
- Dai, Minghui;
- Jin, Xin;
- Zheng, Dingxin;
- Xiao, Die;
- Deng, Lihua;
- Ou, Peiling;
- Shi, Linfeng;
- Chen, Yifan;
- Wang, Jian;
- Chen, Wei;
- Zhang, Yuanchao;
- Liu, Chen
- Article
24
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03759-4
- Wang, Rui;
- Zheng, Yu;
- Yang, Ge;
- Xu, Zhenchao;
- Liu, Yaoxi;
- Zhao, Weihua;
- Wang, Hua;
- Mei, Haibo;
- Zhu, Guanghui
- Article
25
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03749-6
- Xie, Tiange;
- Xu, Na;
- Zhao, He;
- Han, Yingdong;
- Wu, Juan;
- Di, Hong;
- Peng, Min;
- Zhang, Ting;
- Fan, Hongwei;
- Zhang, Yun;
- Zeng, Xuejun
- Article
26
- British Journal of Haematology, 2025, v. 206, n. 5, p. 1355, doi. 10.1111/bjh.20056
- Vicente‐Garcés, Clara;
- Fernández, Guerau;
- Esperanza‐Cebollada, Elena;
- Richarte‐Franqués, Mercè;
- Crespo‐Carrasco, Alba;
- Montesdeoca, Sara;
- Isola, Ignacio;
- Sarrate, Edurne;
- Cuatrecasas, Esther;
- Rives, Susana;
- Dapena, José Luis;
- Camós, Mireia;
- Vega‐García, Nerea
- Article
27
- British Journal of Haematology, 2025, v. 206, n. 5, p. 1330, doi. 10.1111/bjh.20042
- Harrop, Sean;
- Casan, Joshua;
- Rose, Hannah;
- Sullivan, Michael;
- Mehr, Sam;
- Ngu, Henry;
- Caldwell, Imogen;
- McKendrick, Joseph;
- Anderson, Mary Ann;
- Den Elzen, Nicole;
- Goode, Erin;
- Fox, Lucy C.;
- Lade, Stephen;
- Blombery, Piers
- Article
28
- Frontiers in Oncology, 2025, p. 1, doi. 10.3389/fonc.2025.1549477
- Han, Yanmei;
- Wu, Bian;
- Tan, Jie;
- Wu, Ruolin;
- Wang, Jingjing;
- Ren, Xiaojing;
- Zhang, Yajing;
- Gao, Zairong;
- Xia, Xiaotian
- Article
29
- 2024
- Vij, Harsh;
- Mehdi Rizvi, Syed Haider
- Case Study
30
- Oncologist, 2025, v. 30, n. 5, p. 1, doi. 10.1093/oncolo/oyaf110
- Li, Jiaxin;
- Sun, Lin;
- Liu, Shasha;
- Liu, Huimin;
- Li, Bin;
- Zhan, Hongjie;
- Sun, Yan
- Article
31
- Oncologist, 2025, v. 30, n. 5, p. 1, doi. 10.1093/oncolo/oyaf093
- Chun, Brie M;
- Youngworth, Sandra;
- Abtin, Vicki;
- Stull, David;
- Starkey, Jay;
- Kummar, Shivaani
- Article
32
- Oncologist, 2025, v. 30, n. 5, p. 1, doi. 10.1093/oncolo/oyaf089
- Jeon, June E;
- Chen, Kuei-Ting;
- Madison, Russell;
- Schrock, Alexa B;
- Sokol, Ethan;
- Levy, Mia A;
- Rozenblit, Mariya;
- Huang, Richard S P;
- Pusztai, Lajos
- Article
33
- Oncologist, 2025, v. 30, n. 5, p. 1, doi. 10.1093/oncolo/oyaf062
- Hernández, Isaac Nuñez;
- Palmero, Cristina Gómez;
- Delgado, Juan Ramón;
- Nuño, Ana;
- González, Maria Ángeles Sala;
- Ageitos, Ana González;
- Aguilar, Héctor;
- Miguel, Pablo Ayala de;
- Condori, Elizabeth;
- Beveridge, Roberto Díaz;
- García, Jerónimo Martínez;
- Marquina, Gloria;
- Varela-Pose, Vanesa;
- Rodríguez, Joel Veas;
- Serrano, César
- Article
34
- Oncologist, 2025, v. 30, n. 5, p. 1, doi. 10.1093/oncolo/oyaf079
- Xing, Puyuan;
- Pu, Xingxiang;
- Zhou, Yu;
- Liu, Ziling;
- Yao, Yu;
- Liu, Jiayu;
- Wang, Shouzheng;
- Hu, Ying;
- Li, Junling;
- Wu, Lin
- Article
35
- Oncologist, 2025, v. 30, n. 5, p. 1, doi. 10.1093/oncolo/oyaf052
- Palleschi, Michela;
- Virga, Alessandra;
- Scarpi, Emanuela;
- Fonzi, Eugenio;
- Musolino, Antonino;
- Merloni, Filippo;
- Sarti, Samanta;
- Danesi, Rita;
- Ravegnani, Mila;
- Casadei, Chiara;
- Sirico, Marianna;
- Gianni, Caterina;
- Maltoni, Roberta;
- Bravaccini, Sara;
- Calistri, Daniele;
- Arcangeli, Valentina;
- Zampiga, Valentina;
- Cangini, Ilaria;
- Bandini, Erika;
- Mannozzi, Francesca
- Article
36
- Oncologist, 2025, v. 30, n. 5, p. 1, doi. 10.1093/oncolo/oyaf029
- Girard, Nicolas;
- Xu, Qingqing;
- Camidge, D Ross;
- Baijal, Shobhit;
- Ng, Sophia;
- Kamalakar, Rajesh;
- Ratajczak, Christine;
- Alhasani, Hasan;
- Crawford, Samuel;
- Karve, Sudeep;
- Lu, Shun
- Article
37
- Oncologist, 2025, v. 30, n. 5, p. 1, doi. 10.1093/oncolo/oyae294
- Galli-Vareia, Ilianna;
- Szturz, Petr;
- Voutsadakis, Ioannis A;
- Villard, Nicolas;
- Tsoumakidou, Georgia;
- Fleury, Mapi;
- Herrera, Gabriela;
- Fasquelle, Francois;
- Godat, Sebastien;
- Digklia, Antonia
- Article
38
- Medicine Science, 2025, v. 14, n. 2, p. 482, doi. 10.5455/medscience.2025.02.040
- Dondu, Ayse;
- Boyacioglu, Seda Orenay
- Article
39
- Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00313-3
- Miura, Shiroh;
- Suenaga, Seria;
- Goto, Hana;
- Wang, Zhaonan;
- Makino, Akane;
- Fan, Luoming;
- Senzaki, Kensuke;
- Ochi, Masayuki;
- Ohyagi, Yasumasa;
- Shibata, Hiroki
- Article
40
- Paediatrica Indonesiana, 2025, v. 65, n. 2, p. 171, doi. 10.14238/pi65.2.2025.171-8
- Abd Hamid, Intan Juliana;
- Bee Chin Chen;
- Huey Yin Leong;
- Yusnita Yakob;
- Abd Azize, Nor Azimah;
- Mohd Khalid, Mohd Khairul Nizam;
- Gaik Siew Ch'ng;
- Wee Teik Keng;
- Lock Hock Ngu
- Article
41
- Paediatrica Indonesiana, 2025, v. 65, n. 2, p. 89, doi. 10.14238/pi65.2.2025.89-95
- Aisyi, Mururul;
- Andriastuti, Murti;
- Kosasih, Agus Susanto;
- Handoyo Utomo, Ahmad Rusdan;
- Saputra, Fahreza;
- Sari, Teny Tjitra;
- Sjakti, Hikari Ambara;
- Dwijayanti, Fifi;
- Harimurti, Kuntjoro
- Article
42
- Indian Practitioner, 2025, v. 78, n. 5, p. 42
- Article
43
- Respirology, 2025, v. 30, n. 6, p. 523, doi. 10.1111/resp.70039
- Franco, Giovanni;
- Ba, Ibrahima;
- Nathan, Nadia;
- Guerin, Cécile;
- Lassus, Albane;
- Kannengiesser, Caroline;
- Froidure, Antoine;
- Manali, Effrosyni;
- Bunel, Vincent;
- Bonniaud, Philippe;
- Bouvry, Diane;
- Debray, Marie Pierre;
- Juge, Pierre Antoine;
- Epaud, Ralph;
- Louvrier, Camille;
- Plessier, Aurélie;
- de Fontbrune, Flore Sicre;
- Wémeau‐Stervinou, Lidwine;
- Adam, Sylvain Marchand;
- Chabrol, Alexandre
- Article
44
- Diagnostic Pathology, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13000-025-01663-w
- Zhao, Lingyu;
- Zhao, Na;
- Zhong, Ruiqi;
- Niu, Yiru;
- Chang, Ziyi;
- Su, Peng;
- Wang, Zhihui;
- Cui, Lifang;
- Wang, Bei;
- Chen, Huang;
- Wang, Xiaowen;
- Kong, Xiangbing;
- Du, Baolin;
- Ren, Fei;
- Zhong, Dingrong
- Article
45
- BMC Medicine, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12916-025-04124-9
- Wu, Jinsong;
- Wu, Shuai;
- Cao, Dandan;
- Xiong, Zhang;
- Zhang, Jianhua;
- Zou, Yourui;
- Wu, Zanyi;
- Nie, Yanli;
- Luo, Chen;
- Yao, Ye;
- Song, Yanyan;
- Jiao, Yuchen;
- Chen, Hong;
- Ma, Hui;
- Kang, Dezhi;
- Mao, Ying;
- Yan, Hai
- Article
46
- Allergy & Asthma Proceedings, 2025, v. 46, n. 3, p. 185, doi. 10.2500/aap.2025.46.250013
- Young, Marielle C.;
- Banerji, Aleena
- Article
47
- Molecular Biology & Evolution, 2025, v. 42, n. 5, p. 1, doi. 10.1093/molbev/msaf105
- Tuffaha, Marwa Z;
- Castellano, David;
- Colomé, Claudia Serrano;
- Gutenkunst, Ryan N;
- Wahl, Lindi M
- Article
48
- Journal of Cancer Research & Clinical Oncology, 2025, v. 151, n. 6, p. 1, doi. 10.1007/s00432-025-06232-8
- Taheri, Parisa;
- Golden, Aaron
- Article
49
- NPJ Digital Medicine, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s41746-025-01727-7
- Mossavarali, Shervin;
- Vaezi, Ali;
- Gholami, Zahra;
- Molaei, Alireza;
- Yekaninejad, Mir Saeed;
- Asselbergs, Folkert W.;
- Shafiee, Akbar
- Article
50
- Modern Rheumatology Case Reports, 2025, v. 9, n. 1, p. 20, doi. 10.1093/mrcr/rxae035
- Patel, Jenny A.;
- Thomas, Kristen B.;
- Ristagno, Elizabeth H.;
- Basiaga, Matthew L.
- Article