Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis
Pasumarthi, Divya, Ranganath, Priya, Mandal, Kausik, Lakshmi, N, Dalal, Ashwin, Aggarwal, Shagun
Published in Indian journal of medical research (New Delhi, India : 1994) (01.09.2023)
Published in Indian journal of medical research (New Delhi, India : 1994) (01.09.2023)
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Journal Article
Clinical, Biochemical, Tumoural and Mutation Profile of VHL- and MEN2A-Associated Pheochromocytoma: A Comparative Study
Dhanda, Mallika, Agarwal, Amit, Mandal, Kausik, Gupta, Sushil, Sabaretnam, M., Chand, Gyan, Mishra, Anjali, Agarwal, Gaurav, Mishra, Saroj Kanta
Published in World journal of surgery (01.03.2022)
Published in World journal of surgery (01.03.2022)
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Journal Article
Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance
Srivastava, Somya, Manisha, Rani, Dwivedi, Aradhana, Agarwal, Harshita, Saxena, Deepti, Agrawal, Vinita, Mandal, Kausik
Published in Fetal and pediatric pathology (02.11.2022)
Published in Fetal and pediatric pathology (02.11.2022)
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Journal Article
Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population
Srivastava, Priyanka, Bamba, Chitra, Chopra, Seema, Rohilla, Minakshi, Chaudhry, Chakshu, Kaur, Anupriya, Panigrahi, Inusha, Mandal, Kausik
Published in Frontiers in genetics (16.05.2023)
Published in Frontiers in genetics (16.05.2023)
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Journal Article
Successful Antenatal Diagnosis and Management of a Rare Case of Congenital Fetal Choledochal Cyst
Lata, Indu, Mandelia, Ankur, Mandal, Kausik
Published in Maternal-fetal medicine (Online) (01.07.2021)
Published in Maternal-fetal medicine (Online) (01.07.2021)
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Journal Article
SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries
Srivastava, Priyanka, Tyagi, Ankita, Bamba, Chitra, Kumari, Anu, Kaur, Harvinder, Seth, Saurabh, Kaur, Anupriya, Panigrahi, Inusha, Dayal, Devi, Pramanik, Subhodip, Mandal, Kausik
Published in Journal of clinical research in pediatric endocrinology (01.03.2024)
Published in Journal of clinical research in pediatric endocrinology (01.03.2024)
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Journal Article
Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series
Sinha, Rajiv, Vasudevan, Anil, Agarwal, Indira, Sethi, Sidharth Kumar, Saha, Abhijeet, Pradhan, Subal, Ekambaram, Sudha, Thaker, Nilam, Matnani, Manoj, Banerjee, Sushmita, Sharma, Jyoti, Singhal, Jyoti, Ashraf, Shazia, Mandal, Kausik
Published in Nephron (2015) (01.01.2020)
Published in Nephron (2015) (01.01.2020)
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Journal Article
Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting
Dwivedi, Aradhana, Moirangthem, Amita, Pandey, Himani, Sharma, Pankaj, Srivastava, Priyanka, Yadav, Prabhaker, Saxena, Deepti, Phadke, Shubha, Dabadghao, Preeti, Gupta, Neerja, Kabra, Madhulika, Goyal, Rekha, Biswas, Rituparna, Mangaraj, Swayamsidha, Bhar, Debarati, Chowdhury, Subhankar, Agarwal, Amit, Mandal, Kausik
Published in Egyptian Journal of Medical Human Genetics (01.12.2022)
Published in Egyptian Journal of Medical Human Genetics (01.12.2022)
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Journal Article
A novel in‐frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardation
Banerjee, Santasree, Zhao, Qiang, Wang, Bo, Qin, Jiale, Yuan, Xin, Lou, Ziwei, Zheng, Weizeng, Li, Huanguo, Wang, Xiaojun, Cheng, Xiawei, Zhu, Yu, Lin, Fan, Yang, Fan, Xu, Junyu, Munshi, Anjana, Das, Parimal, Zhou, Yuanfeng, Mandal, Kausik, Wang, Yi, Ayub, Muhammad, Hirokawa, Nobutaka, Xi, Yongmei, Chen, Guangfu, Li, Chen
Published in MedComm (2020) (01.04.2024)
Published in MedComm (2020) (01.04.2024)
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Journal Article
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients
Nampoothiri, Sheela, Yesodharan, Dhanya, Bhattacherjee, Amrita, Ahamed, Hisham, Puri, Ratna Dua, Gupta, Neerja, Kabra, Madhulika, Ranganath, Prajnya, Bhat, Meenakshi, Phadke, Shubha, Radha Rama Devi, Akella, Jagadeesh, Sujatha, Danda, Sumita, Sylaja, Padmavathy Narayana, Mandal, Kausik, Bijarnia‐Mahay, Sunita, Makkar, Ravinder, Verma, Ishwar Chander, Dalal, Ashwin, Ramaswami, Uma
Published in JIMD reports (01.11.2020)
Published in JIMD reports (01.11.2020)
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Journal Article
Incessant left ventricular tachycardia of unusual etiology
Chakraborty, Praloy, Isser, H.S., Arava, Sudheer, Mandal, Kausik
Published in Indian pacing and electrophysiology journal (01.05.2016)
Published in Indian pacing and electrophysiology journal (01.05.2016)
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Journal Article
Unusual Cause of Bidirectional Ventricular Rhythm
Chakraborty, Praloy, Isser, Hermohander Singh, Arava, Sudheer, Bhatia, Mona, Mandal, Kausik, Jahangir, Arshad
Published in JACC. Case reports (01.06.2019)
Published in JACC. Case reports (01.06.2019)
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Journal Article
Bidirectional ventricular tachycardia of unusual etiology
Chakraborty, Praloy, Kaul, Bhavna, Mandal, Kausik, Isser, H.S., Bansal, Sandeep, Subramanian, Anandaraja
Published in Indian pacing and electrophysiology journal (01.11.2015)
Published in Indian pacing and electrophysiology journal (01.11.2015)
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Journal Article
Congenital nephrotic syndrome with diffuse mesangial sclerosis caused by compound heterozygous mutation in LAMA5 gene
Deepthi, Bobbity, Sivakumar, Ramge Ramachandran, Krishnasamy, Sudarsan, Gochhait, Debasis, Mandal, Kausik, Krishnamurthy, Sriram
Published in Pediatric nephrology (Berlin, West) (01.05.2024)
Published in Pediatric nephrology (Berlin, West) (01.05.2024)
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