Ishwar Chander Verma
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Explore the profile of Ishwar Chander Verma including associated specialties, affiliations and a list of published articles.
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Articles
32
Citations
147
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Recent Articles
1.
Bhatia S, Pal S, Kulshrestha S, Gupta D, Soni A, Saxena R, et al.
Eur J Hum Genet
. 2024 Apr;
32(9):1106-1115.
PMID: 38605122
Next generation sequencing based diagnosis has emerged as a promising tool for evaluating critically ill neonates and children. However, there is limited data on its utility in developing countries. We...
2.
Sandal S, Verma I, Bijarnia Mahay S, Dubey S, Sabharwal R, Kulshrestha S, et al.
Indian J Pediatr
. 2023 Oct;
91(7):682-695.
PMID: 37804371
Objectives: To determine the diagnostic yield of next generation sequencing (NGS) in patients with moderate/severe/profound intellectual disability (ID) unexplained by conventional tests and to assess the impact of definitive diagnosis...
3.
Mishra R, Kulshreshtha S, Mandal K, Khurana A, Diego-Alvarez D, Pradas L, et al.
Am J Med Genet A
. 2022 May;
188(8):2339-2350.
PMID: 35499143
Pontocerebellar hypoplasia (PCH) type 12 is a rare, perinatal lethal neurodegenerative genetic disorder caused by biallelic mutations in the COASY gene. Herein, we describe the clinical and neuroradiological profile of...
4.
Bijarnia-Mahay S, Roy G, Padiath Q, Saxena R, Verma I
Ann Indian Acad Neurol
. 2021 Aug;
24(3):413-416.
PMID: 34447008
Autosomal dominant leukodystrophy is an adult onset neurodegenerative disorder presenting with progressive symptoms of ataxia and autonomic dysfunction in fourth or fifth decade in life. It has clinical similarity with...
5.
Lallar M, Arora V, Saxena R, Puri R, Verma I
J Pediatr Genet
. 2021 Feb;
10(1):70-73.
PMID: 33552643
Complete labyrinthine aplasia (CLA) is a rare inner ear anomaly. The only identified genetic cause of CLA with severe sensorineural hearing loss is labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome....
6.
Nampoothiri S, Yesodharan D, Bhattacherjee A, Ahamed H, Puri R, Gupta N, et al.
JIMD Rep
. 2020 Nov;
56(1):82-94.
PMID: 33204599
Fabry disease (FD) is a treatable X linked lysosomal storage disorder with a wide phenotypic spectrum. There is a scarcity of published data on the burden of FD in India....
7.
Bhai P, Kulshrestha S, Puri R, Bijarnia Mahay S, Saxena R, Verma I
Indian J Gastroenterol
. 2020 Nov;
39(6):599-607.
PMID: 33191490
Incidence of colorectal cancer (CRC) is lower in India than in other parts of the world. Approximately 5% to 10% of CRC is inherited. Hereditary non-polyposis colorectal cancer (HNPCC) syndrome...
8.
Narayan V, Bijarnia Mahay S, Verma I, Puri R
Ann Indian Acad Neurol
. 2020 Jul;
23(3):347-351.
PMID: 32606525
Guanidinoacetate methyltransferase (GAMT) deficiency is the second most common defect in the creatine metabolism pathway resulting in cerebral creatine deficiency syndrome (CCDS). We report three patients from two unrelated families,...
9.
Kohli S, Saxena R, Thomas E, Singh K, Bijarnia Mahay S, Puri R, et al.
Indian J Pediatr
. 2020 May;
87(7):495-504.
PMID: 32358784
Background: Dystrophinopathies are common X-linked recessive neuromuscular disorders caused by pathogenic variants in the dystrophin gene (DMD). Analysis of the mutational spectrum in the Indian patients would be useful for...
10.
Bhatia S, Arora V, Verma I
Clin Dysmorphol
. 2020 Mar;
29(3):148-151.
PMID: 32167997
No abstract available.