Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalis ARE Correa, K Naini, P Mishra, V Dadhwal, R Agarwal, R Shukla, ... Prenatal Diagnosis 41 (11), 1414-1424, 2021 | 13 | 2021 |
Hydrops fetalis in PKD1L1‐related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum ARE Correa, M Endrakanti, K Naini, M Kabra, N Gupta Annals of Human Genetics 85 (3-4), 138-145, 2021 | 6 | 2021 |
The spectrum of neurological manifestations and genotype–phenotype correlation in Indian children with Gaucher disease M Venkatachari, S Chakraborty, ARE Correa, P Mishra, KP Kocchar, ... American Journal of Medical Genetics Part A 191 (4), 1038-1043, 2023 | 4 | 2023 |
First case report of Penttinen syndrome from India B Aggarwal, ARE Correa, N Gupta, M Jana, M Kabra American Journal of Medical Genetics Part A 188 (2), 683-687, 2022 | 4 | 2022 |
Mevalonate kinase deficiency as cause of periodic fever in two siblings ARE Correa, N Gupta, N Bagri, P Vignesh, S Alam, S Yamaguchi Indian Pediatrics 57, 180-181, 2020 | 4 | 2020 |
Methylene tetrahydrofolate reductase deficiency R Kaur, ARE Correa, S Thakur, M Kabra, N Gupta The Indian Journal of Pediatrics 87, 951-953, 2020 | 3 | 2020 |
Epigenetic Abnormalities of 11p15. 5 Region in Beckwith-Wiedemann Syndrome-A Report of Eight Indian Cases ARE Correa, P Mishra, M Kabra, N Gupta The Indian Journal of Pediatrics 87, 175-178, 2020 | 1 | 2020 |
Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type N Gupta, ARE Correa, M Jana, M Kabra Journal of Pediatric Genetics 8 (03), 153-156, 2019 | 1 | 2019 |
Ethylmalonic encephalopathy masquerading as malabsorption syndrome-a case report AK Satapathy, A Correa, M Kabra, S Eichler, A Rolfs, M Jana, N Gupta Meta Gene 13, 115-118, 2017 | 1 | 2017 |