B. P. Sankaran

发表

GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome

K. Bhattacharya, P. Procopis, M. Tchan, 2021, Orphanet Journal of Rare Diseases.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

Robert W. Taylor, W. Chung, D. Fisk, 2021, Genetics in Medicine.

Child Neurology: Hereditary Folate Malabsorption

P. Govindaraj, A. Taly, S. Sinha, 2021, Neurology.

Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome

K. Thangaraj, K. Satyamoorthy, P. Govindaraj, 2021, Journal of Neurology.

Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India

K. Thangaraj, P. Govindaraj, A. Taly, 2021, Journal of Molecular Neuroscience.

Functional network connectivity imprint in febrile seizures

Jitender Saini, Sanjib Sinha, Rajanikant Panda, 2021, Scientific Reports.

Infantile Onset Encephalomyopathy, Heart Block, and Sensorineural Hearing Loss: RMND1-Associated Mitochondrial Disease

P. Govindaraj, A. Taly, S. Sinha, 2020, Journal of Pediatric Neurology.

Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning

J. Fletcher, S. Balasubramaniam, G. Ho, 2021, International journal of neonatal screening.

Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions

H. Smeets, P. Govindaraj, A. Taly, 2021, Neuromuscular Disorders.

Audiological Findings in Children with PLA2G6-Associated Neurodegeneration

Jeevendra Kumar Darshini, B. P. Sankaran, V. Vandana, 2022, Journal of the American Academy of Audiology.