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

A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions

一项关于未确诊罕见病的全球调查:观点、挑战和解决方案

Baldovino, Simone; Sciascia, Savino; Carta, Claudio; Salvatore, Marco; Cellai, Laura L; Ferrari, Gianluca; Lumaka, Aimé; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; la Paz, Eva Maria Cutiongco-de; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Béla; Ozbek, Ugur; Pagava, Karaman; Puri, Ratna Dua; Romero, Vaness I; Scaria, Vinod; Jamuar, Saumya S; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A; Wiafe, Samuel A; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica

A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family

COL6A1基因中一种新的剪接位点变异导致马里一个近亲结婚家庭患上乌尔里希先天性肌营养不良症

Maiga, Alassane Baneye; Pamanta, Ibrahim; Bamba, Salia; Cissé, Lassana; Diarra, Salimata; Touré, Sidi; Yalcouyé, Abdoulaye; Diallo, Seydou; Diallo, Salimata; Kané, Fousseyni; Diallo, Seybou Hassane; Ba, Hamidou Oumar; Guinto, Cheick Oumar; Fischbeck, Kenneth; Landoure, Guida; Cissé, Idrissa Ahmadou

Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators

参与未确诊疾病网络国际组织的国家未满足的需求:一项考虑国家医疗保健和经济指标的国际调查

Sciascia, Savino; Roccatello, Dario; Salvatore, Marco; Carta, Claudio; Cellai, Laura L; Ferrari, Gianluca; Lumaka, Aimè; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; Cutiongco-de la Paz, Eva Maria; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Béla; Ozbek, Ugur; Puri, Ratna Dua; Romero, Vanessa I; Scaria, Vinod; Jamuar, Saumya S; Shotelersuk, Vorasuk; Gahl, William A; Wiafe, Samuel A; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica

Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International

未确诊疾病:参与国际未确诊疾病网络的20个国家的需求与机遇

Taruscio, Domenica; Salvatore, Marco; Lumaka, Aimè; Carta, Claudio; Cellai, Laura L; Ferrari, Gianluca; Sciascia, Savino; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; Cutiongco-de la Paz, Eva Maria; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Béla; Ozbek, Ugur; Puri, Ratna Dua; Romero, Vanessa; Scaria, Vinod; Jamuar, Saumya S; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A; Wiafe, Samuel A; Bodamer, Olaf; Posada, Manuel

"Black Lives Matter and Black Research Matters": the African Society of Human Genetics' call to halt racism in science

“黑人的命也是命,黑人研究也至关重要”:非洲人类遗传学会呼吁停止科学领域的种族主义

Wonkam, Ambroise; Bardien, Soraya; Diallo, Rokhaya Ndiaye; Gaye, Amadou; Alimohamed, Mohamed Zahir; Kya, Siana; Makani, Julie; Landoure, Guida; Mutesa, Leon; El-Kamah, Ghada; Mohamed, Amal; Newport, Melanie; Williams, Scott M; Ramsay, Michele; Nembaware, Victoria

Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?

运动神经元存活基因拷贝数变异是否在马里人散发性肌萎缩侧索硬化症的发病和严重程度中起作用?

Sangare, Modibo; Dicko, Ilo; Guinto, Cheick Oumar; Sissoko, Adama; Dembele, Kekouta; Coulibaly, Youlouza; Coulibaly, Siaka Y; Landoure, Guida; Diallo, Abdallah; Dolo, Mamadou; Dolo, Housseini; Maiga, Boubacar; Traore, Moussa; Karembe, Mamadou; Traore, Kadiatou; Toure, Amadou; Sylla, Mariam; Togora, Arouna; Coulibaly, Souleymane; Traore, Sékou Fantamady; Hendrickson, Brant; Bricceno, Katherine; Schindler, Alice B; Kokkinis, Angela; Meilleur, Katherine G; Sangho, Hammadoun Ali; Diakite, Brehima; Kassogue, Yaya; Coulibaly, Yaya Ibrahim; Burnett, Barrington; Maiga, Youssoufa; Doumbia, Seydou; Fischbeck, Kenneth H

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

癫痫、共济失调、神经性耳聋、小管病和 KCNJ10 突变

Detlef Bockenhauer, Sally Feather, Horia C Stanescu, Sascha Bandulik, Anselm A Zdebik, Markus Reichold, Jonathan Tobin, Evelyn Lieberer, Christina Sterner, Guida Landoure, Ruchi Arora, Tony Sirimanna, Dorothy Thompson, J Helen Cross, William van't Hoff, Omar Al Masri, Kjell Tullus, Stella Yeung, Yai