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Intersection of Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy Syndrome: ASAH1 Gene 脊髓性肌萎缩症与进行性肌阵挛癫痫综合征的交集:ASAH1基因 Mustafa, Farsana; Sha, Shariq; Macken, Wiliam L.; Wilson, Lindsay A.; Garg, Ajay; Gupta, Neerja; Bhatia, Rohit; Rajan, Roopa; Gupta, Anu; Singh, Mamta B.; Pitceathly, Robert D. S.; Reilly, Mary M.; Hanna, Michael G.; Vishnu, Venugopalan V. 分享 收藏
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Chest Wall Perforator Flaps in Breast Conservation: Versatile, Affordable, and Scalable: Insights from the Largest Single-Surgeon Audit from India 胸壁穿支皮瓣在乳房保留手术中的应用:多功能、经济且可扩展——来自印度最大单外科医师审计的见解 Koppiker, C. B.; Mishra, Rupa; Jain, Vaibhav; Sivadasan, Priya; Deshmukh, Chetan; Varghese, Beenu; Dhar, Upendra; Vartak, Anushree; Athavale, Namrata; Gupta, Neerja; Busheri, Laleh; Lulla, Vishesha; Bhandari, Sneha; Joshi, Sneha 分享 收藏
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Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre Sheth, Jayesh; Nair, Aadhira; Sheth, Frenny; Ajagekar, Manali; Dhondekar, Tejasvi; Panigrahi, Inusha; Bavdekar, Ashish; Nampoothiri, Sheela; Datar, Chaitanya; Gandhi, Ajit; Muranjan, Mamta; Kaur, Anupriya; Desai, Manisha; Mistri, Mehul; Patel, Chitra; Naik, Premal; Shah, Maulin; Godbole, Koumudi; Kapoor, Seema; Gupta, Neerja; Bijarnia-Mahay, Sunita; Kadam, Sandeep; Solanki, Dhaval; Desai, Soham; Iyer, Anand; Patel, Ketan; Patel, Harsh; Shah, Raju C.; Mehta, Shalmi; Shah, Ruchi; Bhavsar, Riddhi; Shah, Jhanvi; Pandya, Mili; Patel, Bhagyadhan; Shah, Sudhir; Shah, Heli; Shah, Shalin; Bajaj, Shruti; Shah, Siddharth; Thaker, Nilam; Kalane, Umesh; Kamate, Mahesh; Kn, Vykunta Raju; Tayade, Naresh; Jagadeesan, Sujatha; Jain, Deepika; Chandarana, Mitesh; Singh, Jitendra; Mehta, Sanjiv; Suresh, Beena; Sheth, Harsh 分享 收藏
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India Sheth, Harsh; Nair, Aadhira; Bhavsar, Riddhi; Kamate, Mahesh; Gowda, Vykuntaraju K.; Bavdekar, Ashish; Kadam, Sandeep; Nampoothiri, Sheela; Panigrahi, Inusha; Kaur, Anupriya; Shah, Siddharth; Mehta, Sanjeev; Jagadeesan, Sujatha; Suresh, Indrani; Kapoor, Seema; Bajaj, Shruti; Devi, Radha Rama; Prajapati, Ashka; Godbole, Koumudi; Patel, Harsh; Luhar, Zulfiqar; Shah, Raju C.; Iyer, Anand; Bijarnia, Sunita; Puri, Ratna; Muranjan, Mamta; Shah, Ami; Magar, Suvarna; Gupta, Neerja; Tayade, Naresh; Gandhi, Ajit; Sowani, Ajit; Kale, Shrutikaa; Jalan, Anil; Solanki, Dhaval; Dalal, Ashwin; Mane, Shrikant; Prabha, C. Ratna; Sheth, Frenny; Joshi, Chaitanya G.; Joshi, Madhvi; Sheth, Jayesh 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 mortality Sabharwal, 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
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Long term outcome of Moyamoya disease and exploration of genetic architecture using whole exome sequencing Reyaz, Alisha; Vishnu, V. Y.; Singh, Manmohan; Suri, Ashish; Kale, Shashank; Garg, Ajay; Bhatia, Rohit; Gupta, Neerja; Nilima, Nilima; Srivastava, M. V. Padma 分享 收藏
Prenatal sonographic diagnosis of meconium peritonitis and postnatal management Rana, A.; Dadhwal, V.; Sharma, A.; Dhakate, M.; Manchanda, S.; Gupta, N.; Sachdeva, A.; Goel, P.; Kachhawa, G.; Sharma, J.; Bhatla, N. 分享 收藏
SILENT HYPOXIA IN COVID-19: IS IT MORE DANGEROUS? A RETROSPECTIVE COHORT STUDY SIROHIYA, P.; ELAVARAS, A., I; SAGIRAJU, H. K. R.; BARUAH, M.; VIG, S.; RATRE, B.; SINGH, R.; KUMAR, B.; PANDIT, A.; MITTAL, S.; GUPTA, N.; BHATNAGAR, S. 分享 收藏
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GSD IX natural history and novel liver disease severity score: Multicenter international collaboration uncovers longitudinal trends in liver disease severity Paschall, Anna; Mavis, Alisha; Rikhi, Aruna; Sood, Vikrant; Porta, Gilda; Nampoothiri, Sheela; Gupta, Neerja; Abdenur, Jose; Muir, Andrew; Kishnani, Priya 分享 收藏