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

Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management

扩大导致复杂性痉挛性截瘫的HACE1功能缺失变异谱:文献综述及临床管理建议

Yousaf, Hammad; Ali, Sajid; Moulvi, Ahad Yousuf; Khalid, Lubaba Bintee; Javed, Iram; Ghumman, Rafia Zafar; Colson, Cindy; Ibrahim, Shahnaz; Zia, Salma; Khan, Muhammad Musawer; Brunelle, Perrine; Trujillo-Quintero, Juan Pablo; Ruiz, Anna; Kirmani, Salman; Houlden, Henry; Toft, Mathias; Fatima, Ambrin; Iqbal, Zafar

Integrating genetics into medical curriculum: evaluating a dedicated clinical genetics module at Dow university of health sciences

将遗传学融入医学课程:评估道氏健康科学大学的临床遗传学专项模块

Hanif, Misbah Iqbal; Bari, Muhammad Furqan; Hussain, Mushtaq; Khan, Naheed; Hossain, Nazli; Quraishy, Muhammad Saeed; Kirmani, Salman

Risk of sudden cardiac death due to inorganic pyrophosphate A2 deficiency in a Pakistani infant: Diagnostic and management challenges in low-resource settings

巴基斯坦婴儿因无机焦磷酸盐A2缺乏症导致猝死的风险:资源匮乏环境下的诊断和治疗挑战

Khan, Fiza Adnan; Kirmani, Salman; Memon, Muhammad Kamran Younis; Akhtar, Saleem

MicroRNA Expression and Neurocognitive Outcomes in Children and Young People With Primary Brain Tumor in Karachi, Pakistan: A Pilot Exploratory Study.

巴基斯坦卡拉奇原发性脑肿瘤患儿及青少年的microRNA表达与神经认知结果:一项初步探索性研究

Zahid Nida, Mughal Muhammad Nouman, Brown Nick, MÃ¥rtensson Andreas, MÃ¥rtensson Thomas, Ibrahim Muhammad Sufiyan, Naeem Sana, Qazi Siraj, Amin Wajiha, Azam Iqbal, Mushtaq Naureen, Moochhala Mariya, Kausar Faiza, Hasan Aneesa, Javeed Farrukh, Rehman Lal, Altaf Sadaf, Kirmani Salman, Enam Syed Ather

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

借助首届“未确诊疾病黑客马拉松”,突破罕见病诊断的界限

Delgado-Vega, Angelica Maria; Cederroth, Helene; Taylan, Fulya; Ekholm, Katja; Ek, Marlene; Thonberg, Håkan; Jemt, Anders; Nilsson, Daniel; Eisfeldt, Jesper; Bilgrav Saether, Kristine; Höijer, Ida; Akgun-Dogan, Ozlem; Asano, Yui; Barakat, Tahsin Stefan; Batkovskyte, Dominyka; Baynam, Gareth; Bodamer, Olaf; Chetruengchai, Wanna; Corcoran, Pádraic; Couse, Madeline; Danis, Daniel; Demidov, German; Dohi, Eisuke; Erhardsson, Mattias; Fernandez-Luna, Luis; Fujiwara, Toyofumi; Garg, Neha; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Grigelioniene, Giedre; Groza, Tudor; Gunnarsson, Cecilia; Hammarsjö, Anna; Hammond, Charles Kumi; Hatirnaz Ng, Özden; Hesketh, Sirisha; Hettiarachchi, Dineshani; Johansson Soller, Maria; Kirmani, Umn Ahmed; Kjellberg, Martin; Kvarnung, Malin; Kvlividze, Oleg; Lagerstedt-Robinson, Kristina; Lasko, Paul; Lassmann, Timo; Lau, Lynette Y S; Laurie, Steven; Lim, Weng Khong; Liu, Zhandong; Lysenkova Wiklander, Mariya; Makay, Prince; Maiga, Alassane Baneye; Maya-González, Carolina; Meyn, M Stephen; Neethiraj, Ramprasad; Nigro, Vincenzo; Nordgren, Felix; Nordlund, Jessica; Orrsjö, Sara; Ottosson, Jesper; Ozbek, Ugur; Özdemir, Özkan; Partin, Clyde; Pearce, David A; Peck, Raquel; Pedersen, Annie; Pettersson, Maria; Pongpanich, Monnat; Posada de la Paz, Manuel; Ramani, Arun; Romero, Juan Andres; Romero, Vanessa I; Rosenquist, Richard; Saw, Aung Min; Spencer, Matthew; Stattin, Eva-Lena; Srichomthong, Chalurmpon; Tapia-Paez, Isabel; Taruscio, Domenica; Taylor, Julie P; Tkemaladze, Tinatin; Tully, Ian; Tümer, Zeynep; van Zelst-Stams, Wendy A G; Verloes, Alain; Västerviga, Emma; Wang, Sailan; Yang, Rachel; Yamamoto, Shinya; Yépez, Vicente A; Zhang, Qing; Shotelersuk, Vorasuk; Wiafe, Samuel Agyei; Alanay, Yasemin; Botto, Lorenzo D; Kirmani, Salman; Lumaka, Aimé; Palmer, Elizabeth Emma; Puri, Ratna Dua; Wirta, Valtteri; Lindstrand, Anna; Buske, Orion J; Cederroth, Mikk; Nordgren, Ann

Capacity building for pediatric neuro-oncology in Pakistan- a project by my child matters program of Foundation S

巴基斯坦儿科神经肿瘤能力建设——由基金会“我的孩子很重要”项目发起

Mushtaq, Naureen; Qureshi, Bilal Mazhar; Javed, Gohar; Sheikh, Nabeel Ashfaque; Bakhshi, Saqib Kamran; Laghari, Altaf Ali; Enam, Syed Ather; Anwar, Shayan Sirat Maheen; Hilal, Kiran; Kabir, Arsalan; Ahmad, Alia; Goraya, Amber; Mistry, Anum Salman; Rashid, Aqeela; Maaz, Ata Ur Rehman; Munawar, Muhammad Atif; Khan, Atiq Ahmed; Bashir, Farrah; Hashmi, Hina; Saeed, Kamran; Khandwala, Kumail; Rehman, Lal; Dewan, Michael C; Khan, Muhammad Saghir; Karim, Muneeb Uddin; Shaheen, Najma; Zia, Nida; Yasmeen, Nuzhat; Mahmood, Raheela; Memon, Riaz Ahmed Raja; Kirmani, Salman; Resham, Shahzadi; Kadri, Shazia; Riaz, Shazia; Hamid, Syed Ahmer; Ghafoor, Tariq; Imam, Uzma; Mushtaq, Yaseen Rauf; Rana, Zulfiqar Ali; Bouffet, Eric; Minhas, Khurram

Sociodemographic and clinical predictors of quality-of-life outcome in children and young people with primary brain tumour in Karachi, Pakistan: a prospective cohort study

巴基斯坦卡拉奇原发性脑肿瘤患儿及青少年生活质量结局的社会人口学和临床预测因素:一项前瞻性队列研究

Zahid, Nida; Enam, Syed Ather; Mårtensson, Thomas; Azam, Iqbal; Mushtaq, Naureen; Moochhala, Mariya; Hassan, Aneesa; Kausar, Faiza; Bakhshi, Saqib; Rehman, Lal; Javeed, Farrukh; Mughal, Muhammad Nouman; Altaf, Sadaf; Kirmani, Salman; Brown, Nick

Factors associated with changes in the quality of life and family functioning scores of primary caregivers of children and young people with primary brain tumors in Karachi, Pakistan: a prospective cohort study

巴基斯坦卡拉奇市原发性脑肿瘤患儿及青少年主要照护者生活质量和家庭功能评分变化的相关因素:一项前瞻性队列研究

Zahid, Nida; Enam, Syed Ather; Mårtensson, Thomas; Azam, Iqbal; Mushtaq, Naureen; Moochhala, Mariya; Kausar, Faiza; Hassan, Aneesa; Kamran Bakhshi, Saqib; Javed, Farrukh; Rehman, Lal; Mughal, Muhammad Nouman; Altaf, Sadaf; Kirmani, Salman; Brown, Nick

Predictors of neurocognition outcomes in children and young people with primary brain tumor presenting to tertiary care hospitals of Karachi, Pakistan: a prospective cohort study

巴基斯坦卡拉奇三级医院就诊的原发性脑肿瘤患儿及青少年神经认知结局的预测因素:一项前瞻性队列研究

Zahid, Nida; Enam, S Ather; Mårtensson, Thomas; Azam, Iqbal; Mushtaq, Naureen; Moochhala, Mariya; Javed, Farrukh; Kausar, Faiza; Hasan, Aneesa; Rehman, Lal; Mughal, M Nouman; Altaf, Sadaf; Kirmani, Salman; Brown, Nick

Experience in prenatal genetic testing and reproductive decision-making for monogenic disorders from a single tertiary care genetics clinic in a low-middle income country

在低中等收入国家的一家三级遗传诊所,我积累了单基因疾病产前基因检测和生育决策方面的经验。

Hanif, Amna; Akbar, Fizza; Kirmani, Salman; Jaffarali, Amyna; Zainab, Ghulam; Malik, Ayesha; Ansar, Zeeshan; Afroze, Bushra