Schizophrenia in the Context of Neurodevelopmental Disorders in 16p12.2 Chromosomal Deletion: A Case Report by Chithra Uppinkudru, Rakshathi Basavaraju, Gautham Arunachal Udupi, Urvakhsh Meherwan Mehta

Get full text

Generation of induced pluripotent stem cell line, NIMHi009-A, from PBMCs of an adult healthy male by Gautham Arunachal, Madhura Milind Nimonkar, Kenchaiah Raghavendra, Ghati K Chetan, Bhupesh Mehta, Yogananda S. Markandeya

Get full text

OPA1 Mutation Presenting as Ethambutol-Induced Optic Neuropathy by Agam Jain, Saraswati Nashi, Pooja Mailankody, P. R. Srijithesh, Girish B. Kulkarni, Suvarna Alladi, Saloni Bhatia, Gautham Arunachal

Get full text

Melanin Incontinence, Infantile Stroke, and Negative Genetics in a Case of Incontinentia Pigmenti by Sangeeth Thuppanattumadam Ananthasubramanian, Seemikeri Chinmayi Chanrakant, Tumulu Seetam Kumar, Rangasamy Thiruvengadam Rajeswarie, Gautham Arunachal Udupi, Raghavendra Kenchiah, Hansashree Padmanabha

Get full text

Generation and characterisation of a human induced pluripotent stem cell line, NIMHi007-A, from peripheral blood mononuclear cells derived from an adult healthy female by Madhura Milind Nimonkar, Gautham Arunachal, Suravi Sasmita Dash, Swapna Kannothum Kandy, Kenchaiah Raghavendra, Ghati K Chetan, Bhupesh Mehta, Yogananda S Markandeya

Get full text

L-2-Hydroxyglutaric aciduria: An ever-expanding phenotypic spectrum by Sneha Dayanand Kamath, Maya Dattatraya Bhat, Vani Santhosh, Gautham Arunachal, A R Prabhuraj, Karthik Kulanthaivelu, Sabha Ahmed, Ajay Asranna, Raghavendra Kenchaiah

Get full text

Generation of induced pluripotent stem cell line, NIMHi013-A, from PBMCs of a female child with epilepsy carrying a novel SCN1A variant by Gautham Arunachal, Madhura Milind Nimonkar, Pavithra Mahadeva, Ramya Sukrutha, Kenchaiah Raghavendra, Ghati K. Chetan, Manjunatha M. Venkataswamy, Bhupesh Mehta, Yogananda S. Markandeya

Get full text

Generation of induced pluripotent stem cell line NIMHi010-A from dermal fibroblast cells of a healthy individual by Suravi Sasmita Dash, Gautham Arunachal, Madhura Milind Nimonkar, Seena Vengalil, Saraswati Nashi, Ghati K. Chetan, Vijay Kumar Boddu, Atchayaram Nalini, Yogananda S. Markandeya

Get full text

DYT30 due to VPS16 mutation: An etiology of childhood-onset generalized dystonia by Sridhar Shashi, Saraswati Nashi, Gautham Arunachal, N Venkatachalam, Hansashree Padmanabha, Pooja Mailankody, Deepak Menon, Faheem Arshad, Suvarna Alladi, Pavagada Mathuranath, Rohan R Mahale

Get full text

Pontine Tegmental Cap Dysplasia: A Rare Brainstem Malformation Mimicking Hereditary Sensory Autonomic Neuropathy by AR Nagaraj, Guduru Shravanthi, Tumulu Kumar, Tumulu Seetam Kumar, Raghavendra Kenchiah, Rohan Mahale, M Sandhya, Gautham Arunachal Udupi, Pooja Mailankody, PS Mathuranath, Hansashree Padmanabha

Get full text

Expanding the Phenotypic Spectrum of <i>ECEL1</i>-Associated Distal Arthrogryposis by Akshata Huddar, Kiran Polavarapu, Veeramani Preethish-Kumar, Mainak Bardhan, Gopikrishnan Unnikrishnan, Saraswati Nashi, Seena Vengalil, Priyanka Priyadarshini, Karthik Kulanthaivelu, Gautham Arunachal, Hanns Lochmüller, Atchayaram Nalini

Get full text

Primary microgliopathy presenting as degenerative dementias: A case series of novel gene mutations from India by Subasree Ramakrishnan, Faheem Arshad, Keerthana BS, Arun Gokul Pon, Susan Bosco, Sandeep Kumar, Hariharakrishnan Chidambaram, Subhash Chandra Bose Chinnathambi, Karthik Kulanthaivelu, Gautham Arunachal, Suvarna Alladi

Get full text

Adult onset episodic encephalopathy due to citrin deficiency—A case report by Dipti Baskar, Vathsala Lakshmi, Atchayaram Nalini, Gautham Arunachal, Maya Dhattatraya Bhat, Nandakumar Dalavaikodihalli Nanjaiah, Ravi Yadav, Ravindranadh Chowdary, Pritam Raja, Ambati Mounika, P S Sharath, Seena Vengalil

Get full text

Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy by Dipti Baskar, Seena Vengalil, Kiran Polavarapu, Veeramani Preethish-Kumar, Gautham Arunachal, Ramya Sukrutha, Mainak Bardhan, Akshata Huddar, Gopikrishnan Unnikrishnan, Girish Baburao Kulkarni, Yasha T. Chickabasaviah, Rashmi Santhosh Kumar, Atchayaram Nalini, Saraswati Nashi

Get full text

Genetic insights into male autism spectrum disorder in a small cohort of Indian simplex families: findings from whole exome sequencing by Gautham Arunachal Udupi, Srividhya Durbagula, Snijesh Valiya Parambath, Ashitha Siddappa Niranjana Murthy, Meghana Rameshraju K, Chetan Ghati Kasturirangan, Nallur B Ramachandra, Aparna Huligerepura Sosalegowda, Vijaya Raman, Aruna Korlimarla, Naveen Kumar Chandappa Gowda

Get full text

Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum by Dipti Baskar, Rita Christopher, Gautham Arunachal, Davuluri Durga Srinivas Anudeep, Ambati Mounika, TA Sangeeth, Kiran Polavarapu, BS Shalini, Tarachand Joshi, Sai Bhargava Sanka, Saraswati Nashi, Pritam Raja, Ravindranadh Mundlamuri Chowdary, Ravi Yadav, Atchayaram Nalini, Seena Vengalil

Get full text

Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India by Valakunja H. Ganaraja, Kiran Polavarapu, Mainak Bardhan, Veeramani Preethish-Kumar, Shingavi Leena, Ram M. Anjanappa, Seena Vengalil, Saraswati Nashi, Gautham Arunachal, Swetha Gunasekaran, Dhaarini Mohan, Sanita Raju, Gopikrishnan Unnikrishnan, Akshata Huddar, Valasani Ravi-Kiran, Priya T. Thomas, Atchayaram Nalini

Get full text