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

Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis, and other skeletal features

错义变异削弱了与牙齿发育缺陷、脊柱侧弯和其他骨骼特征相关的SOX9磷酸化降解子。

Ettaki, Imane; Haseeb, Abdul; Karvande, Anirudha; Amalou, Ghita; Saih, Asmae; AitRaise, Imane; Hamdi, Salsabil; Wakrim, Lahcen; Barakat, Abdelhamid; Fellah, Hassan; El Alloussi, Mustapha; Lefebvre, Véronique

Left homonymous hemianopia as an atypical manifestation of isolated pachymeningeal metastasis secondary to breast cancer: Case report and review of the literature

左侧同侧偏盲是乳腺癌孤立性硬脑膜转移的非典型表现:病例报告及文献复习

Ahizoune, Aziz; Belouad, Moad; Alloussi, Houda; Allaoui, Mohamed; Hamid, Mohamed; Bourazza, Ahmed

Cerebellar form of multiple system atrophy: A case report

小脑型多系统萎缩:病例报告

Hamid, Mohamed; Slimani, Sara; Alloussi, Houda; Bourazza, Ahmad

Prospective evaluation of interrater agreement between EEG technologists and neurophysiologists

前瞻性评估脑电图技师和神经生理学家之间的评分者间一致性

Beuchat, Isabelle; Alloussi, Senubia; Reif, Philipp S; Sterlepper, Nora; Rosenow, Felix; Strzelczyk, Adam

Ankyloblepharon-ectodermal Defects-cleft Lip-palate Syndrome Due to a Novel Missense Mutation in the SAM Domain of the TP63 Gene

TP63基因SAM结构域中一种新的错义突变导致的睑缘粘连-外胚层缺陷-唇腭裂综合征

Tajir, M; Lyahyai, J; Guaoua, S; El Alloussi, M; Sefiani, A

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

一种针对口腔遗传疾病分子诊断的靶向二代测序检测方法

Prasad, Megana K; Geoffroy, Véronique; Vicaire, Serge; Jost, Bernard; Dumas, Michael; Le Gras, Stéphanie; Switala, Marzena; Gasse, Barbara; Laugel-Haushalter, Virginie; Paschaki, Marie; Leheup, Bruno; Droz, Dominique; Dalstein, Amelie; Loing, Adeline; Grollemund, Bruno; Muller-Bolla, Michèle; Lopez-Cazaux, Séréna; Minoux, Maryline; Jung, Sophie; Obry, Frédéric; Vogt, Vincent; Davideau, Jean-Luc; Davit-Beal, Tiphaine; Kaiser, Anne-Sophie; Moog, Ute; Richard, Béatrice; Morrier, Jean-Jacques; Duprez, Jean-Pierre; Odent, Sylvie; Bailleul-Forestier, Isabelle; Rousset, Monique Marie; Merametdijan, Laure; Toutain, Annick; Joseph, Clara; Giuliano, Fabienne; Dahlet, Jean-Christophe; Courval, Aymeric; El Alloussi, Mustapha; Laouina, Samir; Soskin, Sylvie; Guffon, Nathalie; Dieux, Anne; Doray, Bérénice; Feierabend, Stephanie; Ginglinger, Emmanuelle; Fournier, Benjamin; de la Dure Molla, Muriel; Alembik, Yves; Tardieu, Corinne; Clauss, François; Berdal, Ariane; Stoetzel, Corinne; Manière, Marie Cécile; Dollfus, Hélène; Bloch-Zupan, Agnès

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

海姆勒综合征是由过氧化物酶体生物合成基因 PEX1 和 PEX6 的功能减弱突变引起的。

Ratbi, Ilham; Falkenberg, Kim D; Sommen, Manou; Al-Sheqaih, Nada; Guaoua, Soukaina; Vandeweyer, Geert; Urquhart, Jill E; Chandler, Kate E; Williams, Simon G; Roberts, Neil A; El Alloussi, Mustapha; Black, Graeme C; Ferdinandusse, Sacha; Ramdi, Hind; Heimler, Audrey; Fryer, Alan; Lynch, Sally-Ann; Cooper, Nicola; Ong, Kai Ren; Smith, Claire E L; Inglehearn, Christopher F; Mighell, Alan J; Elcock, Claire; Poulter, James A; Tischkowitz, Marc; Davies, Sally J; Sefiani, Abdelaziz; Mironov, Aleksandr A; Newman, William G; Waterham, Hans R; Van Camp, Guy

Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report

进一步证实FAM20A基因突变致病性及摩洛哥首例釉质发育不全和牙龈增生综合征病例:病例报告

Cherkaoui Jaouad, Imane; El Alloussi, Mustapha; Chafai El Alaoui, Siham; Laarabi, Fatima Zahra; Lyahyai, Jaber; Sefiani, Abdelaziz

Botryoid-type of embryonal rhabdomyosarcoma of renal pelvis in a young woman

年轻女性肾盂葡萄状胚胎性横纹肌肉瘤

Kaabneh, A; Lang, Ch; Eichel, R; Arafat, W; Alloussi, Sch