Implications of CYP21A2 gene duplications in carrier screening and prenatal diagnosis of congenital adrenal hyperplasia due to 21 Hydroxylase deficiency by Sudhisha Dubey, Renu Saxena, Ratna Dua Puri, Ishwar Chander Verma

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Unclassified sudden infant death due to congenital long QT syndrome with TRPM4 mutation by Jasleen Kaur, Ratna Dua Puri, Sharmila B Mukherjee, Bijal Vyas

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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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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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Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients by Veronica Arora, Nitika Setia, Ashwin Dalal, Maria Celestina Vanaja, Deepti Gupta, Tinku Razdan, Shubha R. Phadke, Renu Saxena, Anshu Rohtagi, Ishwar C. Verma, Ratna Dua Puri

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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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Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International by Domenica Taruscio, Marco Salvatore, Aimè Lumaka, Aimè Lumaka, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Savino Sciascia, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa Romero, Vinod Scaria, Saumya S. Jamuar, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada

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Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators by Savino Sciascia, Dario Roccatello, Marco Salvatore, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Aimè Lumaka, Aimè Lumaka, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa I. Romero, Vinod Scaria, Saumya S. Jamuar, Saumya S. Jamuar, Vorasuk Shotelersuk, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada, Domenica Taruscio

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