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

Integration of ear and hearing care services in low- and middle-income health systems: a systematic review and qualitative synthesis

中低收入国家卫生系统中耳科和听力保健服务的整合:系统评价和定性综合分析

de Kock, Carmen; Gilson, Lucy

Genetics of Waardenburg Syndrome in Africa: A Systematic Review

非洲瓦尔登堡综合征的遗传学:系统性综述

Aboagye, Elvis Twumasi; Wonkam, Ramses Peigou; de Kock, Carmen; Dandara, Collet; Wonkam, Ambroise

Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss.

通过外显子组测序在加纳近亲多重家族中鉴定出双等位基因 MARVELD2 变异,该家族表现出非综合征性听力损失

Twumasi Aboagye Elvis, Adadey Samuel Mawuli, Alves de Souza Rios Leonardo, Esoh Kevin K, Wonkam-Tingang Edmond, Xhakaza Lettilia, De Kock Carmen, Schrauwen Isabelle, Amenga-Etego Lucas, Lang Dirk, Awandare Gordon A, Leal Suzanne M, Mowla Shaheen, Wonkam Ambroise

Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.

全外显子组测序揭示了马里听力障碍的已知基因和候选基因

Yalcouyé Abdoulaye, Schrauwen Isabelle, Traoré Oumou, Bamba Salia, Aboagye Elvis Twumasi, Acharya Anushree, Bharadwaj Thashi, Latanich Rachel, Esoh Kevin, Fortes-Lima Cesar A, de Kock Carmen, Jonas Mario, Maiga Alassane Dit Baneye, Cissé Cheick A K, Sangaré Moussa A, Guinto Cheick O, Landouré Guida, Leal Suzanne M, Wonkam Ambroise

The Diverse Genetic Landscape of Hearing Impairment in South African Families

南非家庭听力障碍的多样化遗传图谱

Bharadwaj, Thashi; Acharya, Anushree; Manyisa, Noluthando Rearabetswe; Aboagye, Elvis Twumasi; Peigou Wonkam, Ramses; Xhakaza, Lettilia; Popel, Kalinka; de Kock, Carmen; Schrauwen, Isabelle; Wonkam, Ambroise; Leal, Suzanne M

Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda.

外显子组测序揭示了来自卢旺达的一个患有非典型 Cornelia de Lange 综合征的多重家族中 TRMT61 A 的一个新的纯合变异

Uwibambe Esther, Yalcouyé Abdoulaye, Aboagye Elvis Twumasi, Xhakaza Lettilia, Popel Kalinka, Dukuze Norbert, Bharadwaj Thashi, de Kock Carmen, Schrauwen Isabelle, Leal Suzanne M, Mutesa Leon, Wonkam Ambroise

Age Estimate of GJB2-p.(Arg143Trp) Founder Variant in Hearing Impairment in Ghana, Suggests Multiple Independent Origins across Populations

加纳听力障碍中GJB2-p.(Arg143Trp)创始变异的年龄估计表明,该变异在不同人群中具有多个独立的起源。

Aboagye, Elvis Twumasi; Adadey, Samuel Mawuli; Esoh, Kevin; Jonas, Mario; de Kock, Carmen; Amenga-Etego, Lucas; Awandare, Gordon A; Wonkam, Ambroise

GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal

GJB2是塞内加尔非综合征性听力障碍的主要原因

Dia, Yacouba; Adadey, Samuel Mawuli; Diop, Jean Pascal Demba; Aboagye, Elvis Twumasi; Ba, Seydi Abdoul; De Kock, Carmen; Ly, Cheikh Ahmed Tidjane; Oluwale, Oluwafemi Gabriel; Sène, Andrea Regina Gnilane; Sarr, Pierre Diaga; Diallo, Bay Karim; Diallo, Rokhaya Ndiaye; Wonkam, Ambroise

Erratum for Brunschwig et al., "UCT943, a Next-Generation Plasmodium falciparum PI4K Inhibitor Preclinical Candidate for the Treatment of Malaria"

Brunschwig 等人的论文“UCT943,一种用于治疗疟疾的下一代恶性疟原虫 PI4K 抑制剂临床前候选药物”的勘误

Brunschwig, Christel; Lawrence, Nina; Taylor, Dale; Abay, Efrem; Njoroge, Mathew; Basarab, Gregory S; Le Manach, Claire; Paquet, Tanya; Gonzàlez Cabrera, Diego; Nchinda, Aloysius T; de Kock, Carmen; Wiesner, Lubbe; Denti, Paolo; Waterson, David; Blasco, Benjamin; Leroy, Didier; Witty, Michael J; Donini, Cristina; Duffy, James; Wittlin, Sergio; White, Karen L; Charman, Susan A; Jiménez-Díaz, Maria Belén; Angulo-Barturen, Iñigo; Herreros, Esperanza; Gamo, Francisco Javier; Rochford, Rosemary; Mancama, Dalu; Coetzer, Theresa L; van der Watt, Mariëtte E; Reader, Janette; Birkholtz, Lyn-Marie; Marsh, Kennan C; Solapure, Suresh M; Burke, John E; McPhail, Jacob A; Vanaerschot, Manu; Fidock, David A; Fish, Paul V; Siegl, Peter; Smith, Dennis A; Wirjanata, Grennady; Noviyanti, Rintis; Price, Ric N; Marfurt, Jutta; Silue, Kigbafori D; Street, Leslie J; Chibale, Kelly

UCT943, a Next-Generation Plasmodium falciparum PI4K Inhibitor Preclinical Candidate for the Treatment of Malaria

UCT943,一种用于治疗疟疾的下一代恶性疟原虫PI4K抑制剂临床前候选药物

Brunschwig, Christel; Lawrence, Nina; Taylor, Dale; Abay, Efrem; Njoroge, Mathew; Basarab, Gregory S; Le Manach, Claire; Paquet, Tanya; Cabrera, Diego Gonzàlez; Nchinda, Aloysius T; de Kock, Carmen; Wiesner, Lubbe; Denti, Paolo; Waterson, David; Blasco, Benjamin; Leroy, Didier; Witty, Michael J; Donini, Cristina; Duffy, James; Wittlin, Sergio; White, Karen L; Charman, Susan A; Jiménez-Díaz, Maria Belén; Angulo-Barturen, Iñigo; Herreros, Esperanza; Gamo, Francisco Javier; Rochford, Rosemary; Mancama, Dalu; Coetzer, Theresa L; van der Watt, Mariëtte E; Reader, Janette; Birkholtz, Lyn-Marie; Marsh, Kennan C; Solapure, Suresh M; Burke, John E; McPhail, Jacob A; Vanaerschot, Manu; Fidock, David A; Fish, Paul V; Siegl, Peter; Smith, Dennis A; Wirjanata, Grennady; Noviyanti, Rintis; Price, Ric N; Marfurt, Jutta; Silue, Kigbafori D; Street, Leslie J; Chibale, Kelly