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

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

Childhood Hearing Impairment in Senegal

塞内加尔儿童听力障碍

Dia, Yacouba; Loum, Birame; Dieng, Yaay Joor Koddu Biigé; Diop, Jean Pascal Demba; Adadey, Samuel Mawuli; Aboagye, Elvis Twumasi; Ba, Seydi Abdoul; Touré, Abdoul Aziz; Niang, Fallou; Diaga Sarr, Pierre; Tidiane Ly, Cheikh Ahmed; Sène, Andrea Regina Gnilane; Kock, Carmen De; Bassier, Rhiyana; Popel, Kalinka; Ndiaye Diallo, Rokhaya; Wonkam, Ambroise; Diallo, Bay Karim

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes

对加纳家族进行外显子组测序,揭示了已知的和候选的听力障碍基因

Wonkam, Ambroise; Adadey, Samuel Mawuli; Schrauwen, Isabelle; Aboagye, Elvis Twumasi; Wonkam-Tingang, Edmond; Esoh, Kevin; Popel, Kalinka; Manyisa, Noluthando; Jonas, Mario; deKock, Carmen; Nembaware, Victoria; Cornejo Sanchez, Diana M; Bharadwaj, Thashi; Nasir, Abdul; Everard, Jenna L; Kadlubowska, Magda K; Nouel-Saied, Liz M; Acharya, Anushree; Quaye, Osbourne; Amedofu, Geoffrey K; Awandare, Gordon A; Leal, Suzanne M