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

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity

马格里布和约旦语前孤立性耳聋和厄舍尔综合征的遗传学:利用纯合子的潜力

Riahi, Zied; Boucher, Sophie; Abdi, Samia; Wong Jun Tai, Fabienne; Singh-Estivalet, Amrit; Aghaie, Asadollah; Niasme-Grare, Magali; Hardelin, Jean-Pierre; Behlouli, Asma; Dahmani, Malika; Talbi, Sonia; Bouyacoub, Yosra; Mkaouar, Rahma; Charfeddine, Cherine; Amalou, Ghita; Bakhchane, Amina; Bousfiha, Amale; Salime, Sara; Elrharchi, Soukaina; Salame, Malak; Hadrami, Mouna; Boussaty, Ely; Charoute, Hicham; Detsouli, Mustapha; Snoussi, Khalid; Rouba, Hassan; Hachmi, Hala El; Veten, Fatimetou; Meiloud, Ghlana; Marrakchi, Jihene; Zainine, Rim; Chahed, Houda; Besbes, Ghazi; Trabelsi, Mediha; Mrad, Ridha; Kraoua, Ichraf; Ouhab, Sofiane; Djennaoui, Djamel; Boudjenah, Farid; Chouery, Eliane; Mustapha, Mirna; Houmeida, Ahmed; Barakat, Abdelhamid; Khodja, Fatima Ammar; Makrelouf, Mohamed; Zenati, Akila; Beltaief, Najeh; Abdelhak, Sonia; Petit, Christine; Bonnet, Crystel

Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number

在突尼斯近亲家庭的两名兄弟姐妹中鉴定出PUS1基因中一种新的截短致病变异:家族内表型变异与线粒体DNA拷贝数相关

Marwa Ammar,Sana Kmiha,Marwa Maalej,Rahma Felhi,Marwa Kharrat,Olfa Alila-Fersi,Jihen Chouchen,Ines Maaloul,Emna Mkaouar-Rebai,Thouraya Kammoun,Abdelaziz Tlili,Faiza Fakhfakh

Genome Tunisia Project: paving the way for precision medicine in North Africa

突尼斯基因组计划:为北非精准医疗铺平道路

Hamdi, Yosr; Trabelsi, Mediha; Ghedira, Kais; Boujemaa, Maroua; Ben Ayed, Ikhlas; Charfeddine, Cherine; Souissi, Amal; Rejeb, Imen; Kammoun Rebai, Wafa; Hkimi, Chaima; Neifar, Fadoua; Jandoubi, Nouha; Mkaouar, Rahma; Chaouch, Melek; Bennour, Ayda; Kamoun, Selim; Chaker Masmoudi, Hend; Abid, Nabil; Mezghani Khemakhem, Maha; Masmoudi, Saber; Saad, Ali; BenJemaa, Lamia; BenKahla, Alia; Boubaker, Samir; Mrad, Ridha; Kamoun, Hassen; Abdelhak, Sonia; Gribaa, Moez; Belguith, Neila; Kharrat, Najla; Hmida, Dorra; Rebai, Ahmed

Abstracts from the 56(th) European Society of Human Genetics (ESHG) Conference: e-Posters

第56届欧洲人类遗传学会(ESHG)会议摘要:电子海报

Tshering, Kezang C; DiStefano, Marina T; Oza, Andrea M; Ajuyah, Pamela; Webb, Ryan; Edoh, Enyonam; Broeren, Ellie; Ratliff, Julie; Gitau, Vanessa; Paris, Kelley; Aburyyan, Amal; Alexander, John; Albano, Victoria; Bai, Donglin; Booth, Kevin T A; Buonfiglio, Paula I; Charfeddine, Cherine; Dalamón, Viviana; Castillo, Ignacio Del; Moreno-Pelayo, Miguel Angel; Duzkale, Hatice; Dorshorst, Ben; Faridi, Rabia; Kenna, Margaret; Lewis, Morag A; Luo, Minjie; Lu, Yu; Mkaouar, Rahma; Matsunaga, Tatsuo; Nara, Kiyomitsu; Pandya, Arti; Redfield, Shelby; Roux, Isabelle; Schimmenti, Lisa A; Schrauwen, Isabelle; Shaaban, Sherin; Shen, Jun; Vona, Barbara; Smith, Richard J; Rehm, Heidi L; Azaiez, Hela; Abou Tayoun, Ahmad N; Amr, Sami S

Gut microbiota in cats with inflammatory bowel disease and low-grade intestinal T-cell lymphoma

患有炎症性肠病和低级别肠道T细胞淋巴瘤的猫的肠道菌群

Drut, Amandine; Mkaouar, Héla; Kriaa, Aicha; Mariaule, Vincent; Akermi, Nizar; Méric, Tristan; Sénécat, Odile; Maguin, Emmanuelle; Hernandez, Juan; Rhimi, Moez

Industrial diet intervention modulates the interplay between gut microbiota and host in semi-stray dogs

工业化饮食干预调节半流浪犬肠道菌群与宿主之间的相互作用

Rhimi, Soufien; Jablaoui, Amin; Hernandez, Juan; Mariaule, Vincent; Akermi, Nizar; Méric, Tristan; Mkaouar, Héla; Wysocka, Magdalena; Lesner, Adam; Borgi, Mohamed Ali; Maguin, Emmanuelle; Rhimi, Moez

Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health

更正:突尼斯综合征性耳聋的当前表型和遗传谱:为精准听觉健康铺平道路

Mkaouar, Rahma; Riahi, Zied; Marrakchi, Jihene; Mezzi, Nessrine; Romdhane, Lilia; Boujemaa, Maroua; Dallali, Hamza; Sayeb, Marwa; Lahbib, Saida; Jaouadi, Hajer; Boudabbous, Hela; Zekri, Lotfi; Chargui, Mariem; Messaoud, Olfa; Elyounsi, Meriem; Kraoua, Ichraf; Zaouak, Anissa; Turki, Ilhem; Mokni, Mourad; Boucher, Sophie; Petit, Christine; Giraudet, Fabrice; Mbarek, Chiraz; Besbes, Ghazi; Halayem, Soumeyya; Zainine, Rim; Turki, Hamida; Tounsi, Amel; Bonnet, Crystel; Mrad, Ridha; Abdelhak, Sonia; Trabelsi, Mediha; Charfeddine, Cherine

Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health

突尼斯综合征性耳聋的当前表型和遗传谱:为精准听觉健康铺平道路

Mkaouar, Rahma; Riahi, Zied; Marrakchi, Jihene; Mezzi, Nessrine; Romdhane, Lilia; Boujemaa, Maroua; Dallali, Hamza; Sayeb, Marwa; Lahbib, Saida; Jaouadi, Hager; Boudabbous, Hela; Zekri, Lotfi; Chargui, Mariem; Messaoud, Olfa; Elyounsi, Meriem; Kraoua, Ichraf; Zaouak, Anissa; Turki, Ilhem; Mokni, Mourad; Boucher, Sophie; Petit, Christine; Giraudet, Fabrice; Mbarek, Chiraz; Besbes, Ghazi; Halayem, Soumeyya; Zainine, Rim; Turki, Hamida; Tounsi, Amel; Bonnet, Crystel; Mrad, Ridha; Abdelhak, Sonia; Trabelsi, Mediha; Charfeddine, Cherine

SP-1, a Serine Protease from the Gut Microbiota, Influences Colitis and Drives Intestinal Dysbiosis in Mice

SP-1,一种来自肠道菌群的丝氨酸蛋白酶,会影响小鼠的结肠炎并导致肠道菌群失调。

Kriaa, Aicha; Jablaoui, Amin; Rhimi, Soufien; Soussou, Souha; Mkaouar, Héla; Mariaule, Vincent; Gruba, Natalia; Gargouri, Ali; Maguin, Emmanuelle; Lesner, Adam; Rhimi, Moez

Gut Serpinome: Emerging Evidence in IBD

肠道丝氨酸蛋白酶组:炎症性肠病的新证据

Mkaouar, Héla; Mariaule, Vincent; Rhimi, Soufien; Hernandez, Juan; Kriaa, Aicha; Jablaoui, Amin; Akermi, Nizar; Maguin, Emmanuelle; Lesner, Adam; Korkmaz, Brice; Rhimi, Moez