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

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

FAT1 中的纯合移码突变会导致一种以小眼球缺损、眼睑下垂、肾病和并指为特征的综合征

期刊:Nature Communications
影响因子:14.7
doi:10.1038/s41467-019-08547-w
Najim Lahrouchi, Aman George, Ilham Ratbi, Ronen Schneider, Siham C Elalaoui, Shahida Moosa, Sanita Bharti, Ruchi Sharma, Mones Abu-Asab, Felix Onojafe, Najlae Adadi, Elisabeth M Lodder, Fatima-Zahra Laarabi, Yassine Lamsyah, Hamza Elorch, Imane Chebbar, Alex V Postma, Vassilios Lougaris, Alessandro
信号转导
ICC-IF
WB
发表日期：2019
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Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome

跨种族全基因组分析揭示儿童类固醇敏感性肾病综合征的免疫相关风险等位基因和表型相关性

期刊:Journal of the American Society of Nephrology
影响因子:9.4
doi:10.1681/ASN.2017111185
Debiec, Hanna; Dossier, Claire; Letouzé, Eric; Gillies, Christopher E; Vivarelli, Marina; Putler, Rosemary K; Ars, Elisabet; Jacqz-Aigrain, Evelyne; Elie, Valery; Colucci, Manuela; Debette, Stéphanie; Amouyel, Philippe; Elalaoui, Siham C; Sefiani, Abdelaziz; Dubois, Valérie; Simon, Tabassome; Kretzler, Matthias; Ballarin, Jose; Emma, Francesco; Sampson, Matthew G; Deschênes, Georges; Ronco, Pierre
免疫/内分泌
发表日期：2018
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Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

外显子组测序揭示摩洛哥一个患有先天性佩利措伊斯-梅尔茨巴赫病家族中存在一种新的PLP1基因突变：病例报告

期刊:BMC Pediatrics
影响因子:2
doi:10.1186/s12887-018-1063-5
Lyahyai, Jaber; Ouled Amar Bencheikh, Bouchra; Elalaoui, Siham C; Mansouri, Maria; Boualla, Lamia; DIonne-Laporte, Alexandre; Spiegelman, Dan; Dion, Patrick A; Cossette, Patrick; Rouleau, Guy A; Sefiani, Abdelaziz
PLP1
发表日期：2018
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Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

更正：外显子组测序揭示摩洛哥一个患有先天性佩利措伊斯-梅尔茨巴赫病家族中一种新的PLP1突变：病例报告

期刊:BMC Pediatrics
影响因子:2
doi:10.1186/s12887-018-1114-y
Lyahyai, Jaber; Bencheikh, Bouchra Ouled Amar; Elalaoui, Siham C; Mansouri, Maria; Boualla, Lamia; DIonne-Laporte, Alexandre; Spiegelman, Dan; Dion, Patrick A; Cossette, Patrick; Rouleau, Guy A; Sefiani, Abdelaziz
PLP1
发表日期：2018
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A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome

摩洛哥一个患有沙瓦尔登堡综合征的家族中发现了一种内皮素B受体基因的新突变

期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000371590
Doubaj, Yassamine; Pingault, Véronique; Elalaoui, Siham C; Ratbi, Ilham; Azouz, Mohamed; Zerhouni, Hicham; Ettayebi, Fouad; Sefiani, Abdelaziz
信号转导
发表日期：2015
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