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

Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish

进一步阐明导致人类氧化磷酸化缺陷和斑马鱼早期发育异常的MRPS2缺陷

Kandettu, Amoolya; Yeole, Mayuri; Sekar, Hamsini; Garapati, Kishore; Kaur, Namanpreet; Anand, Aakanksha; Hegde, Pranavi; Nair, Karthik; Medishetti, Raghavender; Bhat, Vivekananda; Radhakrishnan, Periyasamy; Mundkur, Suneel C; Shrikiran, Hebbar A; Pandey, Akhilesh; Sevilimedu, Aarti; Chakrabarty, Sanjiban; Shukla, Anju

Temporal dynamics & determinants of antibiotic resistance gene profiles in the infant gut during the first year of life

婴儿出生第一年肠道内抗生素耐药基因谱的时间动态变化及决定因素

Mahesh, Saahithya; Mutreja, Ankur; Shetty, Vignesh; Kamath, Veena G; Aroor, Shrikiran; Madhav, Archana; Sinha, Pallavi; Ballal, Mamatha

Clinical Profile, Renal Involvement, and Relapse Patterns in Pediatric Henoch-Schönlein Purpura: A Retrospective Observational Study from a Tertiary Care Centre in South India

儿童亨诺赫-舍恩莱因紫癜的临床特征、肾脏受累情况和复发模式:来自南印度一家三级医疗中心的回顾性观察研究

Hebbar, Shrikiran A; Sheshadri, Subramanyam; Samuel, Praveen C; George, Juanitha; Mundkur, Suneel C; Kini, Pushpa; Bhat Y, Ramesh; Lewis, Leslie Edward S

Metabolic Evaluation in Children aged 3 months to 2 years with Global Developmental Delay

对3个月至2岁全面发育迟缓儿童进行代谢评估

Gomes, Rochelle Natasha; Bhat Y, Ramesh; Kini, Sandesh; Kini, Pushpa G; Shrikiran, A; Suneel, C M

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India

印度神经发育队列中导致智力障碍的单基因综合征的新生变异

Pande, Shruti; Majethia, Purvi; Nair, Karthik; Rao, Lakshmi Priya; Mascarenhas, Selinda; Kaur, Namanpreet; do Rosario, Michelle C; Neethukrishna, Kausthubham; Chaurasia, Ankur; Hunakunti, Bhagesh; Jadhav, Nalesh; Xavier, Sruthy; Kumar, Jeevan; Bhat, Vivekananda; Bhavani, Gandham SriLakshmi; Narayanan, Dhanya Lakshmi; Yatheesha, B L; Patil, Siddaramappa J; Nampoothiri, Sheela; Kamath, Nutan; Aroor, Shrikiran; Bhat Y, Ramesh; Lewis, Leslie E; Sharma, Suvasini; Bajaj, Shruti; Sankhyan, Naveen; Siddiqui, Shahyan; Nayak, Shalini S; Bielas, Stephanie; Girisha, Katta Mohan; Shukla, Anju

Thiamine: An indispensable regulator of paediatric neuro-cardiovascular health and diseases

硫胺素:儿童神经心血管健康和疾病不可或缺的调节因子

Ysphaneendramallimoggala; Biswas, Monalisa; Anburaj, Stanly Elstin; Iqbal, Faiza; A, Shrikiran; Suryakanth, Varashree Bolar; Lewis, Leslie Edward S

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications

印度142个家庭儿童期癫痫的遗传和表型特征:咨询和治疗意义

Majethia, Purvi; Kaur, Namanpreet; Mascarenhas, Selinda; Rao, Lakshmi Priya; Pande, Shruti; Narayanan, Dhanya Lakshmi; Bhat, Vivekananda; Nayak, Shalini S; Nair, Karthik Vijay; Prasannakumar, Adarsh Pooradan; Chaurasia, Ankur; Hunakunti, Bhagesh; Jadhav, Nalesh; Farooqui, Sheeba; Yeole, Mayuri; Kothiwale, Vishaka; Naik, Rohit; Bhat, Veena; Aroor, Shrikiran; Lewis, Leslie; Purkayastha, Jayashree; Bhat, Y Ramesh; Praveen, B K; Yatheesha, B L; Patil, Siddaramappa J; Nampoothiri, Sheela; Kamath, Nutan; Siddiqui, Shahyan; Bielas, Stephanie; Girisha, Katta Mohan; Sharma, Suvasini; Shukla, Anju

Evaluation of an interprofessional collaborative practice training module for the management of children with autism spectrum disorder

对自闭症谱系障碍儿童管理跨专业协作实践培训模块的评估

Velladath, Saleena Ummer; Kulkarni, Muralidhar M; Rege, Sumita; Edavana Santhosh, Sreelakshmi; Tiwari, Shivani; John, Sunila; Nayak, Rashmi; Aroor, Shrikiran; Biju, Seena; Ali Mohammed, Ciraj

Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90

进一步证据表明,携带FGF13杂合变异的女性会患上X连锁发育性和癫痫性脑病90。

Narayanan, Dhanya Lakshmi; Majethia, Purvi; Shrikiran, Aroor; Siddiqui, Shahyan; Dalal, Ashwin; Shukla, Anju

Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling

孟德尔遗传病的多位点致病基因组变异:系统表型分析的作用及其对遗传咨询的意义

Narayanan, Dhanya Lakshmi; Udyawar, Divya; Kaur, Parneet; Sharma, Suvasini; Suresh, Narayanaswamy; Nampoothiri, Sheela; do Rosario, Michelle C; Somashekar, Puneeth H; Rao, Lakshmi Priya; Kausthubham, Neethukrishna; Majethia, Purvi; Pande, Shruti; Ramesh Bhat, Y; Shrikiran, Aroor; Bielas, Stephanie; Girisha, Katta Mohan; Shukla, Anju