MTRR gene variants may predispose to the risk of Congenital Heart Disease in Down syndrome patients of Indian origin di Ambreen Asim, Sarita Agarwal, Inusha Panigrahi

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MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome di Sheetal Sharda, Inusha Panigrahi, Ram Kumar Marwaha

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The effect of prophylactic antipyretic administration on post-vaccination adverse reactions and antibody response in children: a systematic review. di Rashmi Ranjan Das, Inusha Panigrahi, Sushree Samiksha Naik

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Methylmalonic Acidemia with Novel MUT Gene Mutations di Inusha Panigrahi, Savita Bhunwal, Harish Varma, Simranjeet Singh

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Non-immune hydrops fetalis due to infantile sialidosis di Inusha Panigrahi, Sudhanshu Grover, Mahesh Hiranandani, Jayesh Sheth

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GENETIC HETEROGENEITY OF BETA GLOBIN MUTATIONS AMONG ASIAN-INDIANS AND IMPORTANCE IN GENETIC COUNSELLING AND DIAGNOSIS di Ravindra Kumar, Kritanjali Singh, Inusha Panigrahi, Sarita Agarwal

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Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants di Amit Singh, Mahak Garg, Mohammed Shariq, Preeti Khetarpal, Inusha Panigrahi

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Severe liver dysfunction in an infant with cystic fibrosis masquerading as metabolic liver disease di K P Srikanth, Inusha Panigrahi, Babu Ram Thapa, Kim Vaiphei

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Clinical and Radiological Characterisation of Patients with Mucopolysaccharidosis in a Genetic Clinic di Pallavelangini Swetha, Inusha Panigrahi, Akshay Saxena, Anupriya Kaur, Rozy Thakur

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Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians di Parminder Kaur, Inusha Panigrahi, Harleen Kaur, Thakurvir Singh, Chakshu Chaudhry

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Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India di Inusha Panigrahi, Sudha Rao, Shalu Verma Kumar, Divya Kumari, Parminder Kaur

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Development of a new screening method for faster kinship analyses in mass disasters: a proof of concept study di Sonia Kakkar, Phulen Sarma, Inusha Panigrahi, S. P. Mandal, Pankaj Shrivastava, R. K. Kumawat

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Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder di Inusha Panigrahi, Manoj Dhanorkar, Renu Suthar, Chanchal Kumar, Mullai Baalaaji, Babu Ram Thapa, Jasvinder Kalra

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Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort di Priyanka Srivastava, Shifali Gupta, Chitra Bamba, Roshan Daniel, Parminder Kaur, Anupriya Kaur, Inusha Panigrahi, Kausik Mandal

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Clinical and molecular characterisation of children with monogenic obesity: a case series di Arun George, Santhosh Navi, Pamali Nanda, Roshan Daniel, Kiran Anand, Sayan Banerjee, Inusha Panigrahi, Devi Dayal

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Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population di Priyanka Srivastava, Chitra Bamba, Seema Chopra, Minakshi Rohilla, Chakshu Chaudhry, Anupriya Kaur, Inusha Panigrahi, Kausik Mandal

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SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries di Priyanka Srivastava, Ankita Tyagi, Chitra Bamba, Anu Kumari, Harvinder Kaur, Saurabh Seth, Anupriya Kaur, Inusha Panigrahi, Devi Dayal, Subhodip Pramanik, Kausik Mandal

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Estrogen Receptor 1 Gene Polymorphism and its Association with Idiopathic Short Stature in a North Indian Population di Ravi Shankar Patel, Roshan Daniel, Chitra Bhardwaj, Anu Kumari, Pratibha Bawa, Ankita Tyagi, Devi Dayal, Anupriya Kaur, Inusha Panigrahi, Harvinder Kaur, Priyanka Srivastava

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Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature di Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth

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Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation di Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi, Raju Shah, Sheela Nampoothiri, Sumita Danda, Chaitanya Datar, Seema Kapoor, Seema Bhatwadekar, Frenny Sheth

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