Exome Sequencing in Monogenic Forms of Rickets von Jacob, Prince, Bhavani, Gandham SriLakshmi, Udupa, Prajna, Wang, Zheng, Hariharan, Sankar V., Delampady, Kishan, Dalal, Ashwin, Kamath, Nutan, Ikegawa, Shiro, Shenoy, Rathika D., Handattu, Koushik, Shah, Hitesh, Girisha, Katta M.

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Hutchinson–Gilford syndrome (Progeria) with heterozygous mutation in the LMNA Gene-ENST00000368300.9 presenting with mandibuloacral dysplasia and acrogeroid features—overlap of pre... von Muralidharan, Sniya, Nair, Sukumaran, Hariharan, Sankar

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Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India von Chaudhary, Ajay Kumar, Gholse, Aishwarya, Nagarajaram, Hampapathalu Adimurthy, Dalal, Ashwin Bhikaji, Gupta, Neerja, Dutta, Atanu Kumar, Danda, Sumita, Gupta, Rekha, Sankar, Hariharan V., Bhavani, Gandham SriLakshmi, Girisha, Katta M., Phadke, Shubha Rao, Ranganath, Prajnya, Bashyam, Murali Dharan

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A Novel Missense Variant c.125G>A on Exon 3- Presenting as Neonatal Purpura Fulminans with Persisting Fetal Vasculature von Babu, Ajeesh, I, Riaz, Hariharan, Sankar

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Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia von Jacob, Prince, Singh, Swati, Bhavani, Gandham SriLakshmi, Gowrishankar, Kalpana, Narayanan, Dhanya Lakshmi, Nampoothiri, Sheela, Patil, S J, Soni, J P, Muranjan, Mamta, Kapoor, Seema, Dhingra, Bhavna, Bhat, Ballambattu Vishnu, Bajaj, Shruti, Banerjee, Amrita, Mamadapur, Mahabaleshwar, Hariharan, Sankar V, Kamath, Nutan, Shenoy, Rathika D, Suri, Deepti, Shukla, Anju, Dalal, Ashwin, Phadke, Shubha R, Nishimura, Gen, Mortier, Geert, Shah, Hitesh, Girisha, Katta M

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Neimann-Pick Disease Presenting as a Case of Severe Dementia and Seizures von Rajan, Greeshmendu, Iype, Mary, Sreedharan, Mini, Ahamed, Shahanaz, Hariharan, Sankar V, Raveendran, Reshmi, Lal, Roshni R, Sahu, Priyanka, Perween, Shama, Beena, Neeraja

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Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients von Boggula, Vijay R, Shukla, Anju, Danda, Sumita, Hariharan, Sankar V, Nampoothiri, Sheela, Kumar, Rashmi, Phadke, Shubha R

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Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of In... von Mistri, Mehul, Mehta, Sanjeev, Solanki, Dhaval, Kamate, Mahesh, Gupta, Neerja, Kabra, Madhulika, Puri, Ratna, Girisha, Katta, Hariharan, Sankar, Nampoothiri, Sheela, Sheth, Frenny, Sheth, Jayesh

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Determinants of very low birth weight in India: The National Family Health Survey - 4 von Scaria, Liss, Soman, Biju, George, Babu, Ahamed, Zulfikar, Hariharan, Sankar, Jeemon, Panniyammakal

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Spinal cord ischaemia following the gluteal injection of Benzathine benzylpenicillin von Osman, Suha A. N., Swarna, Shyam S., Russell-Hobbs, Kate, Hariharan, Sankar, Babiker, Ayah M.

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50 Years Ago in TheJournalofPediatrics von Hariharan, Sankar Vaikom, Gupta, Piyush

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50 Years Ago in T J P von Hariharan, Sankar Vaikom, Gupta, Piyush

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Novel and recurrent mutations in WISP3 and an atypical phenotype von Bhavani, Gandham SriLakshmi, Shah, Hitesh, Dalal, Ashwin B., Shukla, Anju, Danda, Sumita, Aggarwal, Shagun, Phadke, Shubha R., Gupta, Neerja, Kabra, Madhulika, Gowrishankar, Kalpana, Gupta, Anju, Bhat, Meenakshi, Puri, Ratna D., Bijarnia-Mahay, Sunita, Nampoothiri, Sheela, Mohanasundaram, Kavitha M., Rajeswari, S., Kulkarni, Akhil M., Kulkarni, Muralidhar L., Ranganath, Prajnya, Ramadevi, A. Radha, Hariharan, Sankar V., Girisha, Katta Mohan

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Proportion and Pattern of Chromosomal Abnormalities in Primary Amenorrhea in Kerala- A Retrospective Study von Thankam, Uma, Hariharan, Sankar Vaikom, Sarojam, Santhi, Syamala, Remya, Alex, Sherrin Thomas, Ratnamma, Nandini V, Jacob, Sujamol

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Quantifying the Microstructure of Dried Deposits Using Height–Height Correlation Function von Hariharan, Sankar, Thampi, Sumesh P., Basavaraj, Madivala G.

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Patient with Disorders of Sex Development (DSD): A Case Report from a Tertiary Care Hospital in Thiruvananthapuram, India von Sreejith, Pongillyathundiyil Sasidharan, Balakrishnan, Sheila, Sankar, Vaikom Hariharan, Syamala, Remya, Mohan, Reji, Sundaram, Sankar, Govindan, Krishna, Chandramohanan Nair, Kaleeluvilayil Raghavan Nair

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Kinetics of evaporation of colloidal dispersion drops on inclined surfaces von Hariharan, Sankar, Thampi, Sumesh P, Basavaraj, Madivala G

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A Novel Missense Variant c.125GA on Exon 3-Presenting as Neonatal Purpura Fulminans with Persisting Fetal Vasculature von Babu, Ajeesh, I, Riaz, Hariharan, Sankar

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Persistent Viral Shedding after SARS-CoV-2 Infection in an Infant with Severe Combined Immunodeficiency von Hariharan, Sankar Vaikom, Muthusamy, Sahana, Asokan, Santhosh Kumar

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50 Years Ago in TheJournalofPediatrics: Down syndrome: Creases to chromosomes von Hariharan, Sankar Vaikom, Gupta, Piyush

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