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M

Madhulika Kabra

indian council of medical research (icmr)

41H指数
488论文数
7.7K被引数
收录论文 86
发表时间
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Neuroregression in Childhood: A Red Flag for Inborn Errors of Metabolism儿童神经发育倒退：先天性代谢异常的警示标志
errINDIAN JOURNAL OF PEDIATRICS
IF2
err2026-05-01
err0
PREAI
errKabra, Madhulika
err分享
err收藏
MLC1 alteration in human iPSCs give rise to disease-like cellular vacuolation phenotype in the astrocyte lineageMLC1基因改变在人类iPSCs中导致类似疾病的细胞空泡化表型，出现于星形胶质细胞谱系中。
errOrphanet Journal of Rare Diseases
IF3.5
err2026-03-26
err0
errOAAI
errSaumya Sharma; Vishal Bharti; Prosad Kumar Das; Abdul Rahman; Harshita Sharma; Riya Rauthan; Madhumita RC; Neerja Gupta; Rashmi Shukla; Sujata Mohanty; Madhulika Kabra; Kevin R. Francis; Debojyoti Chakraborty
err分享
err收藏
Profile of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants across India and their variability in different geographic regions印度范围内囊性纤维化跨膜电导调节因子（CFTR）基因变异的分布概况及其在不同地理区域的差异性
errGene
IF2.4
err2025-11-05
err0
PREAI
errMadhumita Roy Chowdhury; Indu Kumari; Kana Ram Jat; Nitin Dhochak; Rakesh Lodha; Sneha Varkki; Prawin Kumar; Jagdish Prasad Goyal; Javeed Iqbal Bhat; SK Kabra; Aaron Chapla; Jhuma Sankar; Madhan Kumar; Sumita Danda; Neerja Gupta; Princy Bamal; Priyanka Medhi; null RuchiDudeja; Madhulika Kabra
err分享
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Genomic Exploration of Severe Mendelian Developmental Anomalies: Insights From Exome Sequencing Analyses in a Large Indian Cohort严重孟德尔发育异常的基因组探索：来自大型印度队列外显子测序分析的见解
errPRENATAL DIAGNOSIS
IF2.7
err2025-09-01
err0
PREAI
errGupta, Neerja; Endrakanti, Mounika; Sadanand, Rohit; Naini, Kamal; Dadhwal, Vatsla; Jana, Manisha; Sharma, Aparna; Kabra, Madhulika
err分享
err收藏
Clinical Utility and Yield of Carrier Exome Sequencing in High-Risk Indian Couples高风险印度夫妇携带者外显子测序的临床应用价值与检出率
errPRENATAL DIAGNOSIS
IF2.7
err2025-05-28
err0
PREAI
errMounika Endrakanti; Sarath R. S; Neerja Gupta; Madhulika Kabra
err分享
err收藏
Safety and efficacy study of taliglucerase alfa in Gaucher disease type 3: A 12-month multi-center trial
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errIstaiti, Majdolen Joleen; Revel-Vilk, Shoshana; Ezgu, Fatih S.; Gupt, Neerja; Jana, Manisha; Zimran, Ari; Kabra, Madhulika
err分享
err收藏
Obituary for Professor Ishwar Chander Verma伊什瓦尔·昌德·瓦马教授讣告
errJOURNAL OF INHERITED METABOLIC DISEASE
IF3.8
err2025-01-24
err0
PREAI
errBijarnia-Mahay, Sunita; Puri, Ratna Dua; Kabra, Madhulika
err分享
err收藏
Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality
errMitochondrion
IF4.5
err2024-03-01
err1
PREAI
errSabharwal, Ankit; Gupta, Vishu; Kv, Shamsudheen; Manokaran, Ranjith Kumar; Verma, Ankit; Mishra, Anushree; Bhoyar, Rahul C.; Jain, Abhinav; Sivadas, Ambily; Rawat, Sonali; Jolly, Bani; Mohanty, Sujata; Gulati, Sheffali; Gupta, Neerja; Kabra, Madhulika; Scaria, Vinod; Sivasubbu, Sridhar
err分享
err收藏
Phylogeny and evolution of SARS-CoV-2 during Delta and Omicron variant waves in India印度德尔塔和奥密克戎变异株流行期间SARS-CoV-2的系统发育与进化
errJOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
IF2.4
err2023-06-15
err3
PREAI
errSingh, Urvashi B.; Deb, Sushanta; Rani, Lata; Gupta, Ritu; Verma, Sunita; Kumari, Lata; Bhardwaj, Deepika; Bala, Kiran; Ahmed, Jawed; Gaurav, Sudesh; Perumalla, Sowjanya; Nizam, Md.; Mishra, Anwita; Stephenraj, J.; Shukla, Jyoti; Nayer, Jamshed; Aggarwal, Praveen; Kabra, Madhulika; Ahuja, Vineet; Chaudhry, Rama; Sinha, Subrata; Guleria, Randeep
err分享
err收藏
Genomic surveillance of SARS-CoV-2 upsurge in India due to Omicron sub-lineages BA.2.74, BA.2.75 and BA.2.76
errLANCET REGIONAL HEALTH - SOUTHEAST ASIA
IF6.2
err2023-04-01
err3
errOAAI
errSingh, Urvashi B.; Deb, Sushanta; Rani, Lata; Bhardwaj, Deepika; Gupta, Ritu; Kabra, Madhulika; Bala, Kiran; Kumari, Lata; Perumalla, Sowjanya; Shukla, Jyoti; Nayer, Jamshed; Aggarwal, Praveen; Ahuja, Vineet; Chaudhry, Rama; Sinha, Subrata; Guleria, Randeep
err分享
err收藏
Post-mortem MRI in stillbirth: Normal imaging appearances死产的死后MRI: 正常的影像学表现
errEUROPEAN JOURNAL OF RADIOLOGY
IF3.3
err2022-03-01
err2
PREAI
errGupta, Neerja; Gupta, Amit; Kumar, Atin; Kabra, Madhulika; Sharma, Raju; Gupta, Arun Kumar; Jana, Manisha
err分享
err收藏
Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine mapping in the MHC and genome wide
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2022-01-01
err27
errOAAI
errStuart, Philip E.; Tsoi, Lam C.; Nair, Rajan P.; Ghosh, Manju; Kabra, Madhulika; Shaiq, Pakeeza A.; Raja, Ghazala K.; Qamar, Raheel; Thelma, B. K.; Patrick, Matthew T.; Parihar, Anita; Singh, Sonam; Khandpur, Sujay; Kumar, Uma; Wittig, Michael; Degenhardt, Frauke; Tejasvi, Trilokraj; Voorhees, John J.; Weidinger, Stephan; Franke, Andre; Abecasis, Goncalo R.; Sharma, Vinod K.; Elder, James T.
err分享
err收藏
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency印度酸性鞘磷脂酶缺乏症患者SMPD1新变体的功能表征
errHUMAN MUTATION
IF3.7
err2021-08-03
err8
errOAAI
errDeshpande, Dipti; Gupta, Shailesh Kumar; Sarma, Asodu Sandeep; Ranganath, Prajnya; Jain, Jamal Md Nurul S.; Sheth, Jayesh; Mistri, Mehul; Gupta, Neerja; Kabra, Madhulika; Phadke, Shubha R.; Girisha, Katta M.; Puri, Ratna Dua; Aggarwal, Shagun; Datar, Chaitanya; Mandal, Kausik; Tilak, Preetha; Muranjan, Mamta; Bijarnia-Mahay, Sunita; Devi, Radha Rama A.; Tayade, Naresh B.; Ranjan, Akash; Dalal, Ashwin B.
err分享
err收藏
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians源自1455个临床和研究外显子组的变异数据集可有效地对印度人的早发性单基因疾病进行变异优先排序
errHUMAN MUTATION
IF3.7
err2021-03-01
err37
errOAAI
errKausthubham, Neethukrishna; Shukla, Anju; Gupta, Neerja; Bhavani, Gandham S.; Kulshrestha, Samarth; Bhowmik, Aneek Das; Moirangthem, Amita; Bijarnia-Mahay, Sunita; Kabra, Madhulika; Puri, Ratna D.; Mandal, Kausik; Verma, Ishwar C.; Bielas, Stephanie L.; Phadke, Shubha R.; Dalal, Ashwin; Girisha, Katta M.
err分享
err收藏
Association of Sleep Apnea With Development and Behavior in Down Syndrome: A Prospective Clinical and Polysomnographic Study唐氏综合症睡眠呼吸暂停与发育和行为的关系: 一项前瞻性临床和多导睡眠图研究
errPEDIATRIC NEUROLOGY
IF2.1
err2021-03-01
err18
PREAI
errAnand, Vaishakh; Shukla, Garima; Gupta, Neerja; Gupta, Anupama; Sapra, Savita; Gulati, Sheffali; Pandey, Ravindra Mohan; Pandey, Shivam; Kabra, Madhulika
err分享
err收藏
Weak Ligaments and Sloping Joints: A New Hypothesis for Development of Congenital Atlantoaxial Dislocation and Basilar Invagination
errNEUROSPINE
IF3.6
err2020-12-31
err10
errOAAI
errChauhan, Avnish K.; Chandra, P. Sarat; Goyal, Nishant; Chowdhury, Madhumita R.; Banerjee, Jyotirmoy; Tripathi, Manjari; Kabra, Madhulika
err分享
err收藏
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective新型冠状病毒肺炎大流行对先天性代谢错误的诊断和管理的影响: 全球视角
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2020-11-01
err32
errOAAI
errElmonem, Mohamed A.; Belanger-Quintana, Amaya; Bordugo, Andrea; Boruah, Ritma; Cortes-Saladelafont, Elisenda; Endrakanti, Mounika; Giraldo, Pilar; Gruenert, Sarah Catharina; Gupta, Neerja; Kabra, Madhulika; Knerr, Ina; Kraemer, Johannes; Kuster, Alice; Levtchenko, Elena; Ngu, Lock-Hock; Rovira-Remisa, M. Mar; Sass, Joern Oliver; Sykut-Cegielska, Jolanta; Tummolo, Albina; van den Heuvel, Lambertus P.
err分享
err收藏
Natural history of non-lethal Raine syndrome during childhood
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2020-04-16
err18
errOAAI
errMameli, Chiara; Zichichi, Giulia; Mahmood, Nasim; Elalaoui, Siham Chafai; Mirza, Adnan; Dharmaraj, Poonam; Burrone, Marco; Cattaneo, Elisa; Sheth, Jayesh; Gandhi, Ajit; Kochar, Gurpreet Singh; Alkuraya, Fowzan Sami; Kabra, Madhulika; Mercurio, Giuseppe; Zuccotti, Gianvincenzo
err分享
err收藏
'Go for it, dream big, work hard and persist': A message to the next generation of CF leaders in recognition of International Women's Day 2020“去做，梦想大，努力工作，坚持不懈”: 给下一代CF领导人的信息，以表彰国际妇女节的2020
errJOURNAL OF CYSTIC FIBROSIS
IF6
err2020-03-01
err2
errOAAI
errAl Langawi, Mona; Byrnes, Cass; Davies, Jane C.; Hamouda, Samia; Kabra, Madhulika; Rached, Samia Z.; Sands, Dorota; Shteinberg, Michal; Taylor-Cousar, Jennifer; Tullis, Elizabeth; Wainwright, Claire
err分享
err收藏
Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease婴儿型庞贝氏病患者的临床和分子疾病谱和结局
errJOURNAL OF PEDIATRICS
IF3.5
err2020-01-01
err23
PREAI
errGupta, Neerja; Kazi, Zoheb B.; Nampoothiri, Sheela; Jagdeesh, Sujatha; Kabra, Madhulika; Puri, Ratna Dua; Muranjan, Mamta; Kalaivani, Mani; Rehder, Catherine; Bali, Deeksha; Verma, Ishwar C.; Kishnani, Priya S.
err分享
err收藏

研究方向

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