Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service

por Sahu, Animesh, Kaur, Savleen, Sukhija, Jaspreet, Srivastava, Priyanka, Kaur, Anupriya
Publicado 2023

Carrier frequency of Spino-muscular atrophy in individuals of a reproductive age group from North India

por Kaur, Anupriya, Kumari, Anu, Kaur, Anit, Sharma, Riya, Srivastava, Priyanka, Suthar, Renu
Publicado 2022

Ocular presentation of Walker–Warburg syndrome with POM2 mutation

por Sukhija, Jaspreet, Isher, Harpreet Kour, Kaur, Savleen, Korla, Shagun, Kaur, Anupriya, Raj, Srishti
Publicado 2022

Cytochrome P450 (CYP2C9*2,*3) & vitamin-K epoxide reductase complex (VKORC1 -1639G<A) gene polymorphisms & their effect on acenocoumarol dose in patients with mechanical heart valv...

por Kaur, Anupriya, Khan, Farah, Agrawal, Suraksha S., Kapoor, Aditya, Agarwal, Surendra K., Phadke, Shubha R.
Publicado 2013

Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population

por Srivastava, Priyanka, Bamba, Chitra, Chopra, Seema, Rohilla, Minakshi, Chaudhry, Chakshu, Kaur, Anupriya, Panigrahi, Inusha, Mandal, Kausik
Publicado 2023

Association of single nucleotide polymorphism rs113420705 of CASP3 in children with Kawasaki disease from North India

por Das, K Gokul, Bhattarai, Dharmagat, Kaur, Anupriya, Kaur, Anit, Kumrah, Rajni, Srivastava, Priyanka, Rawat, Amit, Singh, Surjit
Publicado 2022

Epigenetics in Kawasaki Disease

por Sharma, Kaushal, Vignesh, Pandiarajan, Srivastava, Priyanka, Sharma, Jyoti, Chaudhary, Himanshi, Mondal, Sanjib, Kaur, Anupriya, Kaur, Harvinder, Singh, Surjit
Publicado 2021

Exploring the genetic landscape of diphtheria, tetanus and pertussis vaccination-associated seizures or subsequent epilepsies

por Negi, Sandeep, Sahu, Jitendra Kumar, Bhatia, Prateek, Kaur, Anupriya, Malhi, Prahbhjot, Singh, Gagandeep, Arora, Amit, Sankhyan, Naveen, Kharbanda, Parampreet S.
Publicado 2022

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

por Sheth, Jayesh, Bhavsar, Riddhi, Mistri, Mehul, Pancholi, Dhairya, Bavdekar, Ashish, Dalal, Ashwin, Ranganath, Prajnya, Girisha, Katta M, Shukla, Anju, Phadke, Shubha, Puri, Ratna, Panigrahi, Inusha, Kaur, Anupriya, Muranjan, Mamta, Goyal, Manisha, Ramadevi, Radha, Shah, Raju, Nampoothiri, Sheela, Danda, Sumita, Datar, Chaitanya, Kapoor, Seema, Bhatwadekar, Seema, Sheth, Frenny
Publicado 2019

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

por Nagarajan, Balamurugan, Gowda, Vykuntaraju K., Yoganathan, Sangeetha, Sharawat, Indar Kumar, Srivastava, Kavita, Vora, Nitish, Badheka, Rahul, Danda, Sumita, Kalane, Umesh, Kaur, Anupriya, Madaan, Priyanka, Mehta, Sanjiv, Negi, Sandeep, Panda, Prateek Kumar, Rajadhyaksha, Surekha, Saini, Arushi Gahlot, Saini, Lokesh, Shah, Siddharth, Srinivasan, Varunvenkat M., Suthar, Renu, Thomas, Maya, Vyas, Sameer, Sankhyan, Naveen, Sahu, Jitendra Kumar
Publicado 2023

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

por Minatogawa, Mari, Unzaki, Ai, Morisaki, Hiroko, Syx, Delfien, Sonoda, Tohru, Janecke, Andreas R, Slavotinek, Anne, Voermans, Nicol C, Lacassie, Yves, Mendoza-Londono, Roberto, Wierenga, Klaas J, Jayakar, Parul, Gahl, William A, Tifft, Cynthia J, Figuera, Luis E, Hilhorst-Hofstee, Yvonne, Maugeri, Alessandra, Ishikawa, Ken, Kobayashi, Tomoko, Aoki, Yoko, Ohura, Toshihiro, Kawame, Hiroshi, Kono, Michihiro, Mochida, Kosuke, Tokorodani, Chiho, Kikkawa, Kiyoshi, Morisaki, Takayuki, Kobayashi, Tetsuyuki, Nakane, Takaya, Kubo, Akiharu, Ranells, Judith D, Migita, Ohsuke, Sobey, Glenda, Kaur, Anupriya, Ishikawa, Masumi, Yamaguchi, Tomomi, Matsumoto, Naomichi, Malfait, Fransiska, Miyake, Noriko, Kosho, Tomoki
Publicado 2022