Sandal S - Search Results

1

Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II.

Sandal S, Mahay SB, Gupta D, Saxena R, Verma J, Saxena KK, Puri RD. Sandal S, et al. Clin Dysmorphol. 2022 Jan 1;31(1):23-27. doi: 10.1097/MCD.0000000000000388. Clin Dysmorphol. 2022. PMID: 34561315 No abstract available.

2

Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy.

Sandal S, Razdan TB, Verma J, Dubey S, Ghosh A, Saxena R, Puri RD. Sandal S, et al. Clin Dysmorphol. 2021 Apr 1;30(2):110-114. doi: 10.1097/MCD.0000000000000361. Clin Dysmorphol. 2021. PMID: 33290291 No abstract available.

3

Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohort.

Sandal S, Mahay SB, Dimri Gupta N, Saxena R, Lall M, Dua Puri R. Sandal S, et al. Am J Med Genet A. 2022 Jun;188(6):1904-1908. doi: 10.1002/ajmg.a.62692. Epub 2022 Feb 21. Am J Med Genet A. 2022. PMID: 35191187

4

Next-Generation Sequencing in Unexplained Intellectual Disability.

Sandal S, Verma IC, Mahay SB, Dubey S, Sabharwal RK, Kulshrestha S, Saxena R, Suman P, Kumar P, Puri RD. Sandal S, et al. Indian J Pediatr. 2024 Jul;91(7):682-695. doi: 10.1007/s12098-023-04820-5. Epub 2023 Oct 7. Indian J Pediatr. 2024. PMID: 37804371

5

Progress in Diagnosis and Management of Intellectual Disability in India: A Journey Over Half-a-Century!

Bijarnia-Mahay S, Sandal S, Suman P. Bijarnia-Mahay S, et al. Among authors: sandal s. Indian Pediatr. 2022 Nov 15;59(11):875-878. Indian Pediatr. 2022. PMID: 36370016 Free article. No abstract available.

6

Hypophosphatemic Rickets with R179W Mutation in FGFR23 Gene - A Rare But Treatable Cause of Refractory Rickets.

Sandal S, Arora V, Verma IC. Sandal S, et al. Indian J Pediatr. 2021 Jan;88(1):61-63. doi: 10.1007/s12098-020-03335-7. Epub 2020 May 16. Indian J Pediatr. 2021. PMID: 32415663

7

ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype.

Sandal S, Arora V, Verma IC. Sandal S, et al. Congenit Anom (Kyoto). 2021 Jan;61(1):25-26. doi: 10.1111/cga.12391. Epub 2020 Sep 15. Congenit Anom (Kyoto). 2021. PMID: 32902009 No abstract available.

8

Desmin Myopathy-A Masquerader of Infantile-Onset Pompe Disease.

Rauf A, Ahamed H, Shanil M, Sandal S. Rauf A, et al. Among authors: sandal s. Indian J Pediatr. 2022 Sep;89(9):925. doi: 10.1007/s12098-022-04281-2. Epub 2022 Jul 2. Indian J Pediatr. 2022. PMID: 35779230 No abstract available.

9

Pulmonary Thromboembolism: A Rare but Serious Complication of Nephrotic Syndrome.

Sandal S, Tiewsoh K, Hansdak N, Parajuli B. Sandal S, et al. Indian J Nephrol. 2018 May-Jun;28(3):247-248. doi: 10.4103/ijn.IJN_284_17. Indian J Nephrol. 2018. PMID: 29962680 Free PMC article. No abstract available.

10

Novel mutation in the CHST14 gene causing musculocontractural type of Ehlers-Danlos syndrome.

Sandal S, Kaur A, Panigrahi I. Sandal S, et al. BMJ Case Rep. 2018 Sep 23;2018:bcr2018226165. doi: 10.1136/bcr-2018-226165. BMJ Case Rep. 2018. PMID: 30249733 Free PMC article.

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