Tyrosine hydroxylase deficiency—Clinical insights and a novel deletion in TH gene in an Indian patient by Sunita Bijarnia‐Mahay, Vivek Jain, Beat Thöny

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Weill–Marchesani syndrome: A rare cause of ectopia lentis and short stature by Sapna Sandal, Varshini Shanker, Swasti Pal, Sunita Bijarnia-Mahay

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Case series of creatine deficiency syndrome due to guanidinoacetate methyltransferase deficiency by Vinu Narayan, Sunita Bijarnia Mahay, Ishwar Chander Verma, Ratna Dua Puri

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LMNB1 duplication-mediated autosomal dominant adult-onset leukodystrophy in an Indian family by Sunita Bijarnia-Mahay, Gaurav Roy, Quasar S Padiath, Renu Saxena, Ishwar Chander Verma

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Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation by Veronica Arora, Sunita Bijarnia-Mahay, Samarth Kulshreshtra, Kanika Singh, Ratna Dua Puri, Ishwar Chandar Verma

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Mutation–proved Clouston syndrome in a large Indian family with a variant phenotype by Sangeeta Khatter, Ratna Dua Puri, Sunita Bijarnia Mahay, Pratibha Bhai, Renu Saxena, Ishwar C Verma

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A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia by Luna Bajracharya, Meena Lall, Sunita Bijarnia-Mahay, Praveen Kumar, Imran Mushtaq, Pushpa Saviour, Preeti Paliwal, Anju Joshi, Shruti Agarwal, Praveen Suman

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NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study by Kanika Singh, Sunita Bijarnia-Mahay, V. L. Ramprasad, Ratna Dua Puri, Sandhya Nair, Sheetal Sharda, Renu Saxena, Sudha Kohli, Samarth Kulshreshtha, Indrani Ganguli, Kanwal Gujral, Ishwar C. Verma

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Identification of a Novel Gene Mutation in a Family With X-Linked Dilated Cardiomyopathy Barth Syndrome by Minal Borkar PhD, Sunita Bijarnia-Mahay DCH, DNB, MD, Sudha Kohli PhD, Monica Juneja MD, Yogesh Srivastava M.Sc, Renu Saxena PhD, Ishwar C. Verma FRCP

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Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients by Sheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, Hisham Ahamed, Ratna Dua Puri, Neerja Gupta, Madhulika Kabra, Prajnya Ranganath, Meenakshi Bhat, Shubha Phadke, Akella Radha Rama Devi, Sujatha Jagadeesh, Sumita Danda, Padmavathy Narayana Sylaja, Kausik Mandal, Sunita Bijarnia‐Mahay, Ravinder Makkar, Ishwar Chander Verma, Ashwin Dalal, Uma Ramaswami

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