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

Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families

巴基斯坦近亲结婚家庭中隐性遗传性共济失调和神经病变的分子特征分析

Aslam, Faiza; Wajid, Muhammad; Butt, Amina Iftikhar; Wohler, Elizabeth; Seo, Go Hun; Ji, Weizhen; Lakhani, Saquib A; Sobreira, Nara; Naz, Sadaf

Immune dysregulation from a novel CTLA-4 haploinsufficiency variant.

由新型 CTLA-4 单倍体不足变异引起的免疫失调。

Brodsky Nina N, Kennedy Alan, Glaser Daniel, Jeffries Lauren, Ji Weizhen, Natarajan Eesha, Shin Junghee J, Sansom David M, Lucas Carrie L, Lakhani Saquib A

Biallelic variants in the conserved ribosomal protein chaperone gene PDCD2 are associated with hydrops fetalis and early pregnancy loss.

保守的核糖体蛋白伴侣基因 PDCD2 的双等位基因变异与胎儿水肿和早期妊娠丢失有关

Landry-Voyer Anne-Marie, Holling Tess, Mis Emily K, Mir Hassani Zabih, Alawi Malik, Ji Weizhen, Jeffries Lauren, Kutsche Kerstin, Bachand François, Lakhani Saquib A

Trio exome analysis is a valuable tool for genetic diagnosis of epilepsy in Mali

三重外显子组分析是马里癫痫基因诊断的重要工具。

Bamba, Salia; Jeffries, Lauren; Diarra, Salimata; Nimaga, Karamoko; Touré, Amadou; Goita, Modibo K; Diallo, Seybou H; Ji, Weizhen; Maiga, Alassane Baneye; Traoré, Oumou; Doumbia, Moussa; Koné, Adama; Sanni, Koudoussou Olaréwadjou; Camara, Ahmed; Cissé, Mohamed A; Kane, Ramatoulaye; Nimaga, Ibrahim; Traoré, Mamadou; Cissé, Lassana; Yalcouyé, Abdoulaye; Abdel Kader Cissé, Cheick; Mefoung, Samuel Ephrata; Sangaré, Moussa; Kotioumbé, Mahamadou; Touré, Aissata S; Dembélé, Mohamed Emile; Mis, Emily K; Guinto, Cheick Oumar; Samassékou, Oumar; Traoré, Mahamadou; Khokha, Mustafa K; Landouré, Guida; Lakhani, Saquib A

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

NADSYN1依赖性先天性NAD缺乏症的代谢特征

Szot, Justin O; Cuny, Hartmut; Martin, Ella Mma; Sheng, Delicia Z; Iyer, Kavitha; Portelli, Stephanie; Nguyen, Vivien; Gereis, Jessica M; Alankarage, Dimuthu; Chitayat, David; Chong, Karen; Wentzensen, Ingrid M; Vincent-Delormé, Catherine; Lermine, Alban; Burkitt-Wright, Emma; Ji, Weizhen; Jeffries, Lauren; Pais, Lynn S; Tan, Tiong Y; Pitt, James; Wise, Cheryl A; Wright, Helen; Andrews, Israel D; Pruniski, Brianna; Grebe, Theresa A; Corsten-Janssen, Nicole; Bouman, Katelijne; Poulton, Cathryn; Prakash, Supraja; Keren, Boris; Brown, Natasha J; Hunter, Matthew F; Heath, Oliver; Lakhani, Saquib A; McDermott, John H; Ascher, David B; Chapman, Gavin; Bozon, Kayleigh; Dunwoodie, Sally L

Efficient Removal of Cationic Dye by Biomimetic Amorphous Calcium Carbonate: Behavior and Mechanisms

仿生非晶态碳酸钙高效去除阳离子染料:行为与机理

Liu, Renlu; Ji, Weizhen; Min, Jie; Wen, Pengjun; Li, Yan; Hu, Jialu; Yin, Li; He, Genhe

Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan

揭开约旦儿童肌节性心肌病及其表型模拟疾病的遗传图谱

Azab, Bilal; Aburizeg, Dunia; Shaaban, Sherin T; Ji, Weizhen; Mustafa, Lina; Isbeih, Nooredeen Jamal; Al-Akily, Amal Saleh; Mohammad, Hashim; Jeffries, Lauren; Khokha, Mustafa; Lakhani, Saquib A; Al-Ammouri, Iyad

Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali

病例报告:来自马里的三个互不相关的家族中,新的变异导致发育性和癫痫性脑病

Bamba, Salia; Sidibé, Lala; Diallo, Seybou H; Cissé, Lassana; Dembélé, Kékouta; Yalcouyé, Abdoulaye; Ji, Weizhen; Dembélé, Mohamed Emile; Diarra, Salimata; Maiga, Alassane Dit Baneye; Traoré, Oumou; Diallo, Salimata; Mefoung, Samuel Ephrata; Touré, Amadou; Koné, Adama; Jeffries, Lauren; Guinto, Cheick O; Mis, Emily K; Fischbeck, Kenneth H; Khokha, Mustafa K; Lakhani, Saquib A; Landouré, Guida

Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings

马里进行性肌阵挛性癫痫的基因谱分析揭示了新的发现

Cissé, Lassana; Bamba, Salia; Diallo, Seybou H; Ji, Weizhen; Dembélé, Mohamed Emile; Yalcouyé, Abdoulaye; Coulibaly, Toumany; Traoré, Ibrahima; Jeffries, Lauren; Diarra, Salimata; Maiga, Alassane Dit Baneye; Diallo, Salimata; Nimaga, Karamoko; Touré, Amadou; Traoré, Oumou; Kotioumbé, Mahamadou; Mis, Emily Kathryn; Cissé, Cheick Abdel Kader; Guinto, Cheick Oumar; Fischbeck, Kenneth H; Khokha, Mustafa K; Lakhani, Saquib A; Landouré, Guida

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

视黄酸受体β亚基功能紊乱相关的临床和功能异质性

Caron, Véronique; Chassaing, Nicolas; Ragge, Nicola; Boschann, Felix; Ngu, Angelina My-Hoa; Meloche, Elisabeth; Chorfi, Sarah; Lakhani, Saquib A; Ji, Weizhen; Steiner, Laurie; Marcadier, Julien; Jansen, Philip R; van de Pol, Laura A; van Hagen, Johanna M; Russi, Alvaro Serrano; Le Guyader, Gwenaël; Nordenskjöld, Magnus; Nordgren, Ann; Anderlid, Britt-Marie; Plaisancié, Julie; Stoltenburg, Corinna; Horn, Denise; Drenckhahn, Anne; Hamdan, Fadi F; Lefebvre, Mathilde; Attie-Bitach, Tania; Forey, Peggy; Smirnov, Vasily; Ernould, Françoise; Jacquemont, Marie-Line; Grotto, Sarah; Alcantud, Alberto; Coret, Alicia; Ferrer-Avargues, Rosario; Srivastava, Siddharth; Vincent-Delorme, Catherine; Romoser, Shelby; Safina, Nicole; Saade, Dimah; Lupski, James R; Calame, Daniel G; Geneviève, David; Chatron, Nicolas; Schluth-Bolard, Caroline; Myers, Kenneth A; Dobyns, William B; Calvas, Patrick; Salmon, Caroline; Holt, Richard; Elmslie, Frances; Allaire, Marc; Prigozhin, Daniil M; Tremblay, André; Michaud, Jacques L