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收藏Subtle Clinical Clues for Early Diagnosis of Lethal ORAI1 Deficiency in Infants婴儿致死性ORAI1缺乏症的早期诊断的细微临床线索
Latheef, Yasmin Abdul; Arvinden, V. R.; Edavazhippurath, Athulya; Jain, Abhinav; Saravanan, Priya; Nair, Mohandas; Jolly, Bani; Bhoyar, Rahul C.; Manakkad, Shiny Padinjarayil; Puthenpurayil, Jayakrishnan Machinary; Saphia, Shammy; Dhanasooraj, Dhananjayan; Sivasubbu, Sridhar; Scaria, Vinod; Govindaraj, Geeta Madathil 分享 收藏 分享 收藏 分享 收藏 A global survey about undiagnosed rare diseases: perspectives, challenges, and solutionsBaldovino, Simone; Sciascia, Savino; Carta, Claudio; Salvatore, Marco; Cellai, Laura L.; Ferrari, Gianluca; Lumaka, Aime; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; la Paz, Eva Maria Cutiongco-de; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Bela; Ozbek, Ugur; Pagava, Karaman; Puri, Ratna Dua; Romero, Vaness I.; Scaria, Vinod; Jamuar, Saumya S.; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A.; Wiafe, Samuel A.; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica 分享 收藏 分享 收藏 分享 收藏 Transmethylation and Oxidative Biomarkers in Children with Autism Spectrum Disorder: A Cross Sectional StudyGulati, Sheffali; Narayan, Chinthana L.; Mahesan, Aakash; Kamila, Gautam; Kapoor, Seema; Chaturvedi, Pradeep K.; Scaria, Vinod; Velpandian, Thirumurthy; Jauhari, Prashant; Chakrabarty, Biswaroop; Datta, Sudip K. R.; Pandey, R. M. 分享 收藏 Understanding the variant landscape, and genetic epidemiology of Multiple Endocrine Neoplasia in IndiaVatsyayan, Aastha; Imran, Mohamed; Bhardwaj, Juhi; Vr, Arvinden; Agrawal, Srashti Jyoti; Saikia, Bhaskar Jyoti; Senthivel, Vigneshwar; Pandhare, Kavita; Bhoyar, Rahul C.; Divakar, Mohit Kumar; Mishra, Anushree; Jolly, Bani; Trehan, Suruchi; Sivasubbu, Sridhar; Scaria, Vinod 分享 收藏 Landscape of pharmacogenetic variants associated with non-insulin antidiabetic drugs in the Indian populationSivadas, Ambily; Sahana, S.; Jolly, Bani; Bhoyar, Rahul C.; Jain, Abhinav; Sharma, Disha; Imran, Mohamed; Senthivel, Vigneshwar; Divakar, Mohit Kumar; Mishra, Anushree; Mukhopadhyay, Arpita; Gibson, Greg; Narayan, K. M. Venkat; Sivasubbu, Sridhar; Scaria, Vinod; Kurpad, Anura, V 分享 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 mortalitySabharwal, 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 分享 收藏 分享 收藏 Development of pathophysiologically relevant models of sickle cell disease and β-thalassemia for therapeutic studiesGupta, Pragya; Goswami, Sangam Giri; Kumari, Geeta; Saravanakumar, Vinodh; Bhargava, Nupur; Rai, Akhila Balakrishna; Singh, Praveen; Bhoyar, Rahul C.; Arvinden, V. R.; Gunda, Padma; Jain, Suman; Narayana, Vanya Kadla; Deolankar, Sayali C.; Prasad, T. S. Keshava; Natarajan, Vivek T.; Scaria, Vinod; Singh, Shailja; Ramalingam, Sivaprakash 分享 收藏 Impact of COVID-19 outbreak on healthcare workers in a Tertiary Healthcare Center in India: a cross sectional studyMirza, Shahzad; Arvinden, V. R.; Rophina, Mercy; Bhawalkar, Jitendra; Khan, Uzair; Chothani, Bhavin; Singh, Shivankur; Sharma, Tanya; Dwivedi, Aryan; Pandey, Ellora; Garg, Shivam; Mukhida, Sahjid Sadrudin; Sange, Zeeshan Shabbir Ahmed; Bhaumik, Shalini; Varughese, Jessin; Devkar, Vishwamohini Yallappa; Singh, Jyoti; Anjumol, V. K.; Veena, K.; Mandviwala, Husen Shabbir Husen; Scaria, Vinod; Gupta, Aayush 分享 收藏 Decoding the genetic symphony: Profiling protein-coding and long noncoding RNA expression in T-acute lymphoblastic leukemia for clinical insights解码遗传交响曲: 分析T急性淋巴细胞白血病中蛋白质编码和长链非编码RNA表达的临床见解Verma, Deepak; Kapoor, Shruti; Kumari, Sarita; Sharma, Disha; Singh, Jay; Benjamin, Mercilena; Bakhshi, Sameer; Seth, Rachna; Nayak, Baibaswata; Sharma, Atul; Pramanik, Raja; Palanichamy, Jayanth Kumar; Sivasubbu, Sridhar; Scaria, Vinod; Arora, Mohit; Kumar, Rajive; Chopra, Anita 分享 收藏 Scalable noninvasive amplicon-based precision sequencing (SNAPseq) for genetic diagnosis and screening of β-thalassemia and sickle cell disease using a next-generation sequencing platform使用下一代测序平台，可扩展的基于扩增子的无创精确测序 (SNAPseq) 用于 β-地中海贫血和镰状细胞病的基因诊断和筛查Gupta, Pragya; Arvinden, V. R.; Thakur, Priya; Bhoyar, Rahul C.; Saravanakumar, Vinodh; Gottumukkala, Narendra Varma; Goswami, Sangam Giri; Nafiz, Mehwish; Iyer, Aditya Ramdas; Vignesh, Harie; Soni, Rajat; Bhargava, Nupur; Gunda, Padma; Jain, Suman; Gupta, Vivek; Sivasubbu, Sridhar; Scaria, Vinod; Ramalingam, Sivaprakash 分享 收藏 Maternal-Periconceptional Vitamin B12 Deficiency in Wistar Rats Leads to Sex-Specific Programming for Cardiometabolic Disease Risk in the Next GenerationSingh, Praveen; Kaur, Lovejeet; Ghose, Subhoshree; Varshney, Swati; Jyothi, Vislavath; Ghosh, Sourav; Kommineni, Pujitha; Shamsudheen, Kv; Scaria, Vinod; Sivasubbu, Sridhar; Chandak, Giriraj Ratan; Sengupta, Shantanu 分享 收藏 Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicatorsSciascia, Savino; Roccatello, Dario; Salvatore, Marco; Carta, Claudio; Cellai, Laura L.; Ferrari, Gianluca; Lumaka, Aime; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; Cutiongco-de la Paz, Eva Maria; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Bela; Ozbek, Ugur; Puri, Ratna Dua; Romero, Vanessa I.; Scaria, Vinod; Jamuar, Saumya S.; Shotelersuk, Vorasuk; Gahl, William A.; Wiafe, Samuel A.; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica 分享 收藏 The Landscape of Pharmacogenetic Variants Associated with Noninsulin Antidiabetic Drugs in the Indian PopulationSivadas, Ambily; Sahana, S.; Jolly, Bani; Bhoyar, Rahul C.; Jain, Abhinav; Sharma, Disha; Imran, Mohamed; Senthivel, Vigneshwar; Divakar, Mohit K.; Mishra, Anushree; Mukhopadhyay, Arpita; Narayan, K. M. Venkat; Sivasubbu, Sridhar; Scaria, Vinod; Kurpad, Anura 分享 收藏 G4-binding drugs, chlorpromazine and prochlorperazine, repurposed against COVID-19 infection in hamstersRoy, Shuvra Shekhar; Sharma, Shalu; Rizvi, Zaigham Abbas; Sinha, Dipanjali; Gupta, Divya; Rophina, Mercy; Sehgal, Paras; Sadhu, Srikanth; Tripathy, Manas Ranjan; Samal, Sweety; Maiti, Souvik; Scaria, Vinod; Sivasubbu, Sridhar; Awasthi, Amit; Harshan, Krishnan H.; Jain, Sanjeev; Chowdhury, Shantanu 分享 收藏 
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