Bhatia S - Search Results

1

A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome.

Gupta N, Chakraborty S, Chowdhury MR, Puri RD, Jana M, Kumari I, Bhatia S, Kabra M. Gupta N, et al. Among authors: bhatia s. Eur J Med Genet. 2023 Sep;66(9):104822. doi: 10.1016/j.ejmg.2023.104822. Epub 2023 Aug 17. Eur J Med Genet. 2023. PMID: 37595943

2

Challenges in Chronic Genetic Disorders: Lessons From the COVID-19 Pandemic.

Pal S, Bhatia S, Bijarnia-Mahay S, Verma IC, Puri RD. Pal S, et al. Among authors: bhatia s. Indian Pediatr. 2021 Apr 15;58(4):391-392. doi: 10.1007/s13312-021-2202-x. Indian Pediatr. 2021. PMID: 33883315 Free PMC article.

3

Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.

Bhatia S, Pal S, Kulshrestha S, Gupta D, Soni A, Saxena R, Bijarnia-Mahay S, Verma IC, Puri RD. Bhatia S, et al. Eur J Hum Genet. 2024 Sep;32(9):1106-1115. doi: 10.1038/s41431-024-01569-z. Epub 2024 Apr 11. Eur J Hum Genet. 2024. PMID: 38605122

4

Familial Prion Disease: First Indian Kindred with Gerstmann-Sträussler-Scheinker Syndrome.

Bhatia S, Bijarnia-Mahay S, Dubey S, Gourie-Devi M. Bhatia S, et al. Neurol India. 2020 Nov-Dec;68(6):1431-1434. doi: 10.4103/0028-3886.304068. Neurol India. 2020. PMID: 33342883 Free article.

5

CEDNIK Syndrome - A Report of a Clinically Recognizable Disorder with Prenatal Diagnosis.

Bijarnia-Mahay S, Bhatia S, Gupta D, Sud A, Dubey S, Saxena R. Bijarnia-Mahay S, et al. Among authors: bhatia s. Indian J Pediatr. 2024 Aug;91(8):874. doi: 10.1007/s12098-024-05086-1. Epub 2024 Mar 6. Indian J Pediatr. 2024. PMID: 38443713 No abstract available.

6

A further case of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome due to a recurrent C-terminal binding protein 1 mutation.

Bhatia SK, Arora V, Verma IC. Bhatia SK, et al. Clin Dysmorphol. 2020 Jul;29(3):148-151. doi: 10.1097/MCD.0000000000000321. Clin Dysmorphol. 2020. PMID: 32167997 No abstract available.

7

Acute leukemia presenting as pericardial effusion--a case report.

Handa R, Bhatia S, Wali JP, Kumar L, Kochupillai V, Mohindra M, Arora PS. Handa R, et al. Among authors: bhatia s. Singapore Med J. 1997 Nov;38(11):491-2. Singapore Med J. 1997. PMID: 9550912

8

Yunis-Varon syndrome.

Bhatia S, Holla RG. Bhatia S, et al. Indian Pediatr. 2005 Apr;42(4):373-5. Indian Pediatr. 2005. PMID: 15876600 Free article.

9

Genetic Testing in Pediatric Epilepsy.

Verma IC, Bhatia S, Arora V. Verma IC, et al. Among authors: bhatia s. Indian J Pediatr. 2021 Oct;88(10):1017-1024. doi: 10.1007/s12098-020-03512-8. Epub 2020 Oct 22. Indian J Pediatr. 2021. PMID: 33090324 Review.

10

Congenital heart disease in Down syndrome: an echocardiographic study.

Bhatia S, Verma IC, Shrivastava S. Bhatia S, et al. Indian Pediatr. 1992 Sep;29(9):1113-6. Indian Pediatr. 1992. PMID: 1452307

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