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

Diagnostic Utility of the ATG9A Ratio in AP-4-Associated Hereditary Spastic Paraplegia

ATG9A 比值在 AP-4 相关遗传性痉挛性截瘫诊断中的应用价值

Agianda, Habibah A P; Kim, Hyo-Min; Battaglia, Nicole; Rong, Joshua; Tam, Amy; Gonzalez Saez-Diez, Enrique; Boerkoel, Cornelius F; Saffari, Afshin; Quiroz, Vicente; Schierbaum, Luca; Zaman, Zainab; Bernardi, Katerina; Ebrahimi-Fakhari, Darius

Heterozygous variants in AP4S1 are not associated with a neurological phenotype

AP4S1的杂合变异与神经系统表型无关

Quiroz, Vicente; Zubair, Umar; Schierbaum, Luca; Tam, Amy; Battaglia, Nicole; Rong, Joshua; Agianda, Habibah A P; Alecu, Julian E; Yang, Kathryn; Ebrahimi-Fakhari, Darius

STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy

STUB1相关常染色体隐性遗传性脊髓小脑性共济失调16型(SCAR16)伴戈登-霍姆斯综合征,由母系单亲同源二体性引起

Agianda, Habibah A P; Tam, Amy; Kunta, Avaneesh; Zubair, Umar; Saffari, Afshin; Rong, Joshua; Crough, Michelle; Srouji, Rasha; Quiroz, Vicente; Yang, Kathryn; Schierbaum, Luca; Ebrahimi-Fakhari, Darius

Dent Disease 1 Presented Early with Bartter-Like Syndrome Features and Rickets: A Case Report

早期出现类似巴特综合征特征和佝偻病症状的登特病1型:病例报告

Ambarsari, Cahyani Gita; Agianda, Habibah Azzahra Putri; Saraswati, Meilania; Kim, Jon Jin

Five-Year Cancer Epidemiology at the National Referral Hospital: Hospital-Based Cancer Registry Data in Indonesia

印度尼西亚国家转诊医院五年癌症流行病学:基于医院的癌症登记数据

Gondhowiardjo, Soehartati; Christina, Nadia; Ganapati, Ngakan P D; Hawariy, Salik; Radityamurti, Fahmi; Jayalie, Vito F; Octavianus, Steven; Prawira Putra, Andre; Sekarutami, Sri M; Prajogi, Gregorius B; Giselvania, Angela; Adham, Marlinda; Hamid, Agus R A H; Widyastuti, Endang; Prabowo, Yogi; Aninditha, Tiara; Purwoto, Gatot; Aman, Renindra A; Siregar, Trifona P; Siswoyo, Alvita Dewi; Handjari, Diah R; Atmakusuma, Djumhana; Rajabto, Wulyo; Mulansari, Nadia A; Ratna, Nurul; Pitoyo, Ceva W; Panigoro, Sonar Soni; Kartini, Diani; Yulian, Erwin D; Andrisa, Rossalyn S; Jeo, Wifanto S; Wardhani, Rizky K; Tambunan, Tresia F U; Agianda, Feranindhya