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

Integrated Transcriptomic and Metabolomic Analysis Deciphers the Molecular and Metabolic Mechanisms Underlying Growth Rate Divergence in Dezhou Donkeys

整合转录组学和代谢组学分析揭示德州驴生长速率差异的分子和代谢机制

Wong, Susan P Y; Schell, Jane O; Bursic, Alexandra E; Butler, Catherine R; Callahan, Mary Beth; Corbett, Christine; DeGraauw, Jennifer; Gazaway, Shena; Gelfand, Samantha; Hall, Rasheeda; Saeed, Fahad; Scherer, Jennifer S; Shaban, Hesham; Stein, Eva J; Weiss, Jessica W; Marongiu, Mara; Marcia, Loredana; Sbardellati, Andrea; Deiana, Manila; Asunis, Isadora; Pelosi, Emanuele; Coschiera, Andrea; Crobu, Francesca; Loi, Angela; Melis, Emilio; Mostallino, Maria Cristina; Meloni, Alessandra; Cusano, Roberto; Cucca, Francesco; Uda, Manuela; Crisponi, Laura; Xie, Mei; Deng, Haimei; Liu, Fangjie; Xiao, Wei; Xu, Xiaojun; Xie, Rongli; Sun, Tiantian; Alhomoud, Ibrahim S; Decaminada, Alice; Sunder-Plassmann, Raute; Ho, Weang-Kee; Muhr, Daniela; Starzer, Angelika M; Berghoff, Anna Sophie; Bartsch, Rupert; Singer, Christian F; Tan, Yen Y; Schulz, Johanna; Stark, Veronika C; Harbaum, Lars; Kozlik-Feldmann, Rainer; Mir, Thomas S; Stute, Fridrike; Olfe, Jakob; Park, Yeeun; Jeong, Jin-hyoung; Chou, Yen-Lien; Hsu, Kuo-Feng; Chen, Ssu-Han; Lin, Shu-Yi; Yeh, Ming-Kung; Lin, Chi-Kang; Tsai, Yuan-Ming; Zhang, Xinhao; Li, Haijing; Zhou, Xiangnan; Cao, Xianggang; Dou, Manna; Wang, Changfa; Li, Wenqiang

Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1

罕见遗传疾病是否表现出特定的音型?对克里斯波尼/冷诱发性出汗综合征1型相关声音特征的全面描述

Calà, Federico; Sforza, Elisabetta; D'Alatri, Lucia; Frassineti, Lorenzo; Manfredi, Claudia; Onesimo, Roberta; Rigante, Donato; Pane, Marika; Servidei, Serenella; Primiano, Guido; Crisponi, Giangiorgio; Crisponi, Laura; Leoni, Chiara; Lanatà, Antonio; Zampino, Giuseppe

Understanding the genetic complexity of puberty timing across the allele frequency spectrum

了解青春期发育时间在等位基因频率谱中的遗传复杂性

Kentistou, Katherine A; Kaisinger, Lena R; Stankovic, Stasa; Vaudel, Marc; Mendes de Oliveira, Edson; Messina, Andrea; Walters, Robin G; Liu, Xiaoxi; Busch, Alexander S; Helgason, Hannes; Thompson, Deborah J; Santoni, Federico; Petricek, Konstantin M; Zouaghi, Yassine; Huang-Doran, Isabel; Gudbjartsson, Daniel F; Bratland, Eirik; Lin, Kuang; Gardner, Eugene J; Zhao, Yajie; Jia, Raina Y; Terao, Chikashi; Riggan, Marjorie J; Bolla, Manjeet K; Yazdanpanah, Mojgan; Yazdanpanah, Nahid; Bradfield, Jonathan P; Broer, Linda; Campbell, Archie; Chasman, Daniel I; Cousminer, Diana L; Franceschini, Nora; Franke, Lude H; Girotto, Giorgia; He, Chunyan; Järvelin, Marjo-Riitta; Joshi, Peter K; Kamatani, Yoichiro; Karlsson, Robert; Luan, Jian'an; Lunetta, Kathryn L; Mägi, Reedik; Mangino, Massimo; Medland, Sarah E; Meisinger, Christa; Noordam, Raymond; Nutile, Teresa; Concas, Maria Pina; Polašek, Ozren; Porcu, Eleonora; Ring, Susan M; Sala, Cinzia; Smith, Albert V; Tanaka, Toshiko; van der Most, Peter J; Vitart, Veronique; Wang, Carol A; Willemsen, Gonneke; Zygmunt, Marek; Ahearn, Thomas U; Andrulis, Irene L; Anton-Culver, Hoda; Antoniou, Antonis C; Auer, Paul L; Barnes, Catriona L K; Beckmann, Matthias W; Berrington de Gonzalez, Amy; Bogdanova, Natalia V; Bojesen, Stig E; Brenner, Hermann; Buring, Julie E; Canzian, Federico; Chang-Claude, Jenny; Couch, Fergus J; Cox, Angela; Crisponi, Laura; Czene, Kamila; Daly, Mary B; Demerath, Ellen W; Dennis, Joe; Devilee, Peter; De Vivo, Immaculata; Dörk, Thilo; Dunning, Alison M; Dwek, Miriam; Eriksson, Johan G; Fasching, Peter A; Fernandez-Rhodes, Lindsay; Ferreli, Liana; Fletcher, Olivia; Gago-Dominguez, Manuela; García-Closas, Montserrat; García-Sáenz, José A; González-Neira, Anna; Grallert, Harald; Guénel, Pascal; Haiman, Christopher A; Hall, Per; Hamann, Ute; Hakonarson, Hakon; Hart, Roger J; Hickey, Martha; Hooning, Maartje J; Hoppe, Reiner; Hopper, John L; Hottenga, Jouke-Jan; Hu, Frank B; Huebner, Hanna; Hunter, David J; Jernström, Helena; John, Esther M; Karasik, David; Khusnutdinova, Elza K; Kristensen, Vessela N; Lacey, James V; Lambrechts, Diether; Launer, Lenore J; Lind, Penelope A; Lindblom, Annika; Magnusson, Patrik K E; Mannermaa, Arto; McCarthy, Mark I; Meitinger, Thomas; Menni, Cristina; Michailidou, Kyriaki; Millwood, Iona Y; Milne, Roger L; Montgomery, Grant W; Nevanlinna, Heli; Nolte, Ilja M; Nyholt, Dale R; Obi, Nadia; O'Brien, Katie M; Offit, Kenneth; Oldehinkel, Albertine J; Ostrowski, Sisse R; Palotie, Aarno; Pedersen, Ole B; Peters, Annette; Pianigiani, Giulia; Plaseska-Karanfilska, Dijana; Pouta, Anneli; Pozarickij, Alfred; Radice, Paolo; Rennert, Gad; Rosendaal, Frits R; Ruggiero, Daniela; Saloustros, Emmanouil; Sandler, Dale P; Schipf, Sabine; Schmidt, Carsten O; Schmidt, Marjanka K; Small, Kerrin; Spedicati, Beatrice; Stampfer, Meir; Stone, Jennifer; Tamimi, Rulla M; Teras, Lauren R; Tikkanen, Emmi; Turman, Constance; Vachon, Celine M; Wang, Qin; Winqvist, Robert; Wolk, Alicja; Zemel, Babette S; Zheng, Wei; van Dijk, Ko W; Alizadeh, Behrooz Z; Bandinelli, Stefania; Boerwinkle, Eric; Boomsma, Dorret I; Ciullo, Marina; Chenevix-Trench, Georgia; Cucca, Francesco; Esko, Tõnu; Gieger, Christian; Grant, Struan F A; Gudnason, Vilmundur; Hayward, Caroline; Kolčić, Ivana; Kraft, Peter; Lawlor, Deborah A; Martin, Nicholas G; Nøhr, Ellen A; Pedersen, Nancy L; Pennell, Craig E; Ridker, Paul M; Robino, Antonietta; Snieder, Harold; Sovio, Ulla; Spector, Tim D; Stöckl, Doris; Sudlow, Cathie; Timpson, Nic J; Toniolo, Daniela; Uitterlinden, André; Ulivi, Sheila; Völzke, Henry; Wareham, Nicholas J; Widen, Elisabeth; Wilson, James F; Pharoah, Paul D P; Li, Liming; Easton, Douglas F; Njølstad, Pål R; Sulem, Patrick; Murabito, Joanne M; Murray, Anna; Manousaki, Despoina; Juul, Anders; Erikstrup, Christian; Stefansson, Kari; Horikoshi, Momoko; Chen, Zhengming; Farooqi, I Sadaf; Pitteloud, Nelly; Johansson, Stefan; Day, Felix R; Perry, John R B; Ong, Ken K

Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum

出版商更正:了解青春期发育时间在等位基因频率谱中的遗传复杂性

Kentistou, Katherine A; Kaisinger, Lena R; Stankovic, Stasa; Vaudel, Marc; Mendes de Oliveira, Edson; Messina, Andrea; Walters, Robin G; Liu, Xiaoxi; Busch, Alexander S; Helgason, Hannes; Thompson, Deborah J; Santoni, Federico; Petricek, Konstantin M; Zouaghi, Yassine; Huang-Doran, Isabel; Gudbjartsson, Daniel F; Bratland, Eirik; Lin, Kuang; Gardner, Eugene J; Zhao, Yajie; Jia, Raina Y; Terao, Chikashi; Riggan, Marjorie J; Bolla, Manjeet K; Yazdanpanah, Mojgan; Yazdanpanah, Nahid; Bradfield, Jonathan P; Broer, Linda; Campbell, Archie; Chasman, Daniel I; Cousminer, Diana L; Franceschini, Nora; Franke, Lude H; Girotto, Giorgia; He, Chunyan; Järvelin, Marjo-Riitta; Joshi, Peter K; Kamatani, Yoichiro; Karlsson, Robert; Luan, Jian'an; Lunetta, Kathryn L; Mägi, Reedik; Mangino, Massimo; Medland, Sarah E; Meisinger, Christa; Noordam, Raymond; Nutile, Teresa; Concas, Maria Pina; Polašek, Ozren; Porcu, Eleonora; Ring, Susan M; Sala, Cinzia; Smith, Albert V; Tanaka, Toshiko; van der Most, Peter J; Vitart, Veronique; Wang, Carol A; Willemsen, Gonneke; Zygmunt, Marek; Ahearn, Thomas U; Andrulis, Irene L; Anton-Culver, Hoda; Antoniou, Antonis C; Auer, Paul L; Barnes, Catriona L K; Beckmann, Matthias W; Berrington de Gonzalez, Amy; Bogdanova, Natalia V; Bojesen, Stig E; Brenner, Hermann; Buring, Julie E; Canzian, Federico; Chang-Claude, Jenny; Couch, Fergus J; Cox, Angela; Crisponi, Laura; Czene, Kamila; Daly, Mary B; Demerath, Ellen W; Dennis, Joe; Devilee, Peter; De Vivo, Immaculata; Dörk, Thilo; Dunning, Alison M; Dwek, Miriam; Eriksson, Johan G; Fasching, Peter A; Fernandez-Rhodes, Lindsay; Ferreli, Liana; Fletcher, Olivia; Gago-Dominguez, Manuela; García-Closas, Montserrat; García-Sáenz, José A; González-Neira, Anna; Grallert, Harald; Guénel, Pascal; Haiman, Christopher A; Hall, Per; Hamann, Ute; Hakonarson, Hakon; Hart, Roger J; Hickey, Martha; Hooning, Maartje J; Hoppe, Reiner; Hopper, John L; Hottenga, Jouke-Jan; Hu, Frank B; Huebner, Hanna; Hunter, David J; Jernström, Helena; John, Esther M; Karasik, David; Khusnutdinova, Elza K; Kristensen, Vessela N; Lacey, James V; Lambrechts, Diether; Launer, Lenore J; Lind, Penelope A; Lindblom, Annika; Magnusson, Patrik K E; Mannermaa, Arto; McCarthy, Mark I; Meitinger, Thomas; Menni, Cristina; Michailidou, Kyriaki; Millwood, Iona Y; Milne, Roger L; Montgomery, Grant W; Nevanlinna, Heli; Nolte, Ilja M; Nyholt, Dale R; Obi, Nadia; O'Brien, Katie M; Offit, Kenneth; Oldehinkel, Albertine J; Ostrowski, Sisse R; Palotie, Aarno; Pedersen, Ole B; Peters, Annette; Pianigiani, Giulia; Plaseska-Karanfilska, Dijana; Pouta, Anneli; Pozarickij, Alfred; Radice, Paolo; Rennert, Gad; Rosendaal, Frits R; Ruggiero, Daniela; Saloustros, Emmanouil; Sandler, Dale P; Schipf, Sabine; Schmidt, Carsten O; Schmidt, Marjanka K; Small, Kerrin; Spedicati, Beatrice; Stampfer, Meir; Stone, Jennifer; Tamimi, Rulla M; Teras, Lauren R; Tikkanen, Emmi; Turman, Constance; Vachon, Celine M; Wang, Qin; Winqvist, Robert; Wolk, Alicja; Zemel, Babette S; Zheng, Wei; van Dijk, Ko W; Alizadeh, Behrooz Z; Bandinelli, Stefania; Boerwinkle, Eric; Boomsma, Dorret I; Ciullo, Marina; Chenevix-Trench, Georgia; Cucca, Francesco; Esko, Tõnu; Gieger, Christian; Grant, Struan F A; Gudnason, Vilmundur; Hayward, Caroline; Kolčić, Ivana; Kraft, Peter; Lawlor, Deborah A; Martin, Nicholas G; Nøhr, Ellen A; Pedersen, Nancy L; Pennell, Craig E; Ridker, Paul M; Robino, Antonietta; Snieder, Harold; Sovio, Ulla; Spector, Tim D; Stöckl, Doris; Sudlow, Cathie; Timpson, Nic J; Toniolo, Daniela; Uitterlinden, André; Ulivi, Sheila; Völzke, Henry; Wareham, Nicholas J; Widen, Elisabeth; Wilson, James F; Pharoah, Paul D P; Li, Liming; Easton, Douglas F; Njølstad, Pål R; Sulem, Patrick; Murabito, Joanne M; Murray, Anna; Manousaki, Despoina; Juul, Anders; Erikstrup, Christian; Stefansson, Kari; Horikoshi, Momoko; Chen, Zhengming; Farooqi, I Sadaf; Pitteloud, Nelly; Johansson, Stefan; Day, Felix R; Perry, John R B; Ong, Ken K

Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome

克里斯波尼/冷诱发性出汗综合征的喂养和营养关键特征

Onesimo, Roberta; Sforza, Elisabetta; Palermo, Federica; Giorgio, Valentina; Leoni, Chiara; Rigante, Donato; Trevisan, Valentina; Agazzi, Cristiana; Limongelli, Domenico; Proli, Francesco; Kuczynska, Eliza Maria; Crisponi, Laura; Crisponi, Giangiorgio; Zampino, Giuseppe

Hodgkin Lymphoma after Disseminated Mycobacterium genavense Infection, Germany

德国播散性日内瓦分枝杆菌感染后发生霍奇金淋巴瘤

Trauth, Janina; Discher, Thomas; Fritzenwanker, Moritz; Imirzalioglu, Can; Arnold, Tobias; Steiner, Dagmar; Richter, Elvira; Crisponi, Laura; Grimbacher, Bodo; Herold, Susanne

CRLF1 and CLCF1 in Development, Health and Disease

CRLF1 和 CLCF1 在发育、健康和疾病中的作用

Crisponi, Laura; Buers, Insa; Rutsch, Frank

PB1971: FREQUENCY AND CHARACTERISTICS OF DEL(6Q) IN PATIENTS WITH MULTIPLE MYELOMA FROM LATIN-AMERICAN COUNTRIES. A REAL-WORLD STUDY

PB1971:拉丁美洲多发性骨髓瘤患者中DEL(6Q)的频率和特征。一项真实世界研究

Palomba, Grazia; Loi, Angela; Porcu, Eleonora; Cossu, Antonio; Zara, Ilenia; Budroni, Mario; Dei, Mariano; Lai, Sandra; Mulas, Antonella; Olmeo, Nina; Ionta, Maria Teresa; Atzori, Francesco; Cuccuru, Gianmauro; Pitzalis, Maristella; Zoledziewska, Magdalena; Olla, Nazario; Lovicu, Mario; Pisano, Marina; Abecasis, Gonçalo R; Uda, Manuela; Tanda, Francesco; Michailidou, Kyriaki; Easton, Douglas F; Chanock, Stephen J; Hoover, Robert N; Hunter, David J; Schlessinger, David; Sanna, Serena; Crisponi, Laura; Palmieri, Giuseppe; Stella, F; Leone, P; Pedrazzini, E; Galvano, C; Zurita, S; Coccé, M; Gallego, M; Schultz, N; Alfonso, G; Canelos Moreno, J; Noboa, A; Huamán Garaicoa, F; Paz y Miño, C; Ziembar, M; Ochoa, P; Duarte, P; Quatrin, M; Colombi Martínez, F; Fernández, D; Cugliari, S; Uturbey, F; Peña, C; Slavutsky, I

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

一例伴有GEFS+表型谱的轻型KBG综合征患者发现新型ANKRD11基因突变:病例报告

Alves, Rita Maria; Uva, Paolo; Veiga, Marielza F; Oppo, Manuela; Zschaber, Fabiana C R; Porcu, Giampiero; Porto, Henrique P; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Atzeni, Rossano; Vieira, Lauro C N; Pires, Marcos V A; Cucca, Francesco; Toralles, Maria Betânia P; Angius, Andrea; Crisponi, Laura

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

KLHL7基因的双等位基因突变导致类似Crisponi/CISS1的表型,与早发性视网膜色素变性相关。

Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Höhne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay, Hatice Tuba; Inan, Sibel; El Assy, Osama; Smit, Leo M E; Okur, Ilyas; Boduroglu, Koray; Utine, Gülen Eda; Kılıç, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank