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

Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins

与致病性LMNA变异体R482相关的2型家族性部分脂肪营养不良症的表型变异:母系遗传给非同卵双胞胎

Duque-Cordoba, Paola Andrea; Diaz-Ordoñez, Lorena; Carvajal-Del-Castillo, Laura; Marmolejo, Daniela; Leal, Andres Felipe; Pachajoa, Harry

Symptomatic palatal myoclonus as a rare manifestation of neuro-behcet́s disease: A case report

症状性腭肌阵挛是神经白塞病的一种罕见表现:病例报告

Hormaza-Jaramillo, Andrés; Quintana-Peña, Valentina; Pachajoa, Harry; Candelo, Estephania; Benavides-Ibarra, Sara Alejandra; Orozco, Jorge Luis

30-day Morbidity and Mortality after Cholecystectomy for Benign Gallbladder Disease (AMBROSE): A Prospective, International Collaborative Cohort Study

良性胆囊疾病胆囊切除术后30天发病率和死亡率(AMBROSE):一项前瞻性国际合作队列研究

Wong, Geoffrey Yuet Mun; Wadhawan, Himanshu; Roth Cardoso, Victor; Bravo Merodio, Laura; Rajeev, Yashasvi; Maldonado, Ricardo David; Martinino, Alessandro; Balasubaramaniam, Vignesh; Ashraf, Aabid; Siddiqui, Adeela; Al-Shkirat, Ahmad Ghassan; Mohammed Abu-Elfatth, Ahmed; Gupta, Ajay; Alkaseek, Akram; Ouyahia, Amel; Said, Amira; Pandey, Anshuman; Kumar, Ashwani; Maqbool, Baila; Millán, Carlos Alberto; Singh, Cheena; Pantoja Pachajoa, Diana Alejandra; Adamovich, Dmitry Mikhailovich; Petracchi, Enrique; Ashraf, Fariha; Clementi, Marco; Mulita, Francesk; Marom, Gad Amram; Abdulaal, Gamaleldeen; Verras, Georgios-Ioannis; Calini, Giacomo; Moretto, Gianluigi; Elfeki, Hossam; Liang, Hui; Jalaawiy, Humam; Elzayat, Ibrahim; Das, Jayanta Kumar; Aceves-Ayala, Jose Miguel; Ahmed, Kazi T; Degrate, Luca; Aggarwal, Manisha; Omar, Mohammed Ahmed; Rais, Mounira; Elhadi, Muhammed; Sakran, Nasser; Bhojwani, Rajesh; Agarwalla, Ramesh; Kanaan, Samir; Erdene, Sarnai; Chooklin, Serge; Khuroo, Suhail; Dawani, Surrendar; Asghar, Syed Tanseer; Fung, Tak Kwan James; Omarov, Taryel; Grigorean, Valentin Titus; Boras, Zdenko; V Gkoutos, Georgios; Singhal, Rishi; Mahawar, Kamal

CRISPR/Cas-Based Ex Vivo Gene Therapy and Lysosomal Storage Disorders: A Perspective Beyond Cas9

基于 CRISPR/Cas 的体外基因治疗与溶酶体贮积症:超越 Cas9 的视角

Leal, Andrés Felipe; Prieto, Luis Eduardo; Pachajoa, Harry

Mesenchymal Stem Cell-Derived Extracellular Vesicles: Seeking into Cell-Free Therapies for Bone-Affected Lysosomal Storage Disorders

间充质干细胞来源的细胞外囊泡:探索治疗骨骼溶酶体贮积症的无细胞疗法

Leal, Andrés Felipe; Pachajoa, Harry; Tomatsu, Shunji

Case Report of Nephrogenic Diabetes Insipidus with a Novel Mutation in the AQP2 Gene

一例伴有AQP2基因新突变的肾性尿崩症病例报告

Padilla-Guzmán, Alejandro; Ochoa-Jiménez, Vanessa Amparo; Forero-Delgadillo, Jessica María; Apraez-Murillo, Karen; Pachajoa, Harry; Restrepo, Jaime M

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect

基因组融合:当脑腱黄瘤病、克氏综合征和 BRCA2 变异相遇时

Pachajoa, Harry; Bonilla, Sebastián; Nieva-Posso, Daniel Andrés

Congenital Dermal Melanocytosis Exhibited in Two Patients with Hurler Syndrome: Clinical Characterization and Report of a Recurrent IDUA Allele in Colombia

两名患有赫勒综合征的患者表现出先天性真皮黑素细胞增多症:临床特征及哥伦比亚复发性IDUA等位基因的报告

Vanegas, Sara; Ramírez-Montaño, Diana; Padilla-Guzmán, Alejandro; Pachajoa, Harry

Phytoextraction and Cd Allocation to the Stem of Woody Species Used in Cacao Agroforestry

植物提取及镉向可可农林业所用木本植物茎秆的分配

Carvalho, Fabricio E L; Montenegro, Andrea C; Escobar-Pachajoa, Laura D; Rojas-Molina, Jairo; Camacho-Diaz, Jorge E; Rengifo-Estrada, Gersain A

Recent advances in mucopolysaccharidosis IVA treatment

粘多糖贮积症IVA治疗的最新进展

Leal, Andrés Felipe; Pachajoa, Harry