Shukla A - Search Results

1

Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.

Mishra S, Nair KV, Shukla A. Mishra S, et al. Among authors: shukla a. Clin Dysmorphol. 2023 Oct 1;32(4):162-167. doi: 10.1097/MCD.0000000000000465. Epub 2023 Jun 19. Clin Dysmorphol. 2023. PMID: 37646703 Review.

2

Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV.

Radhakrishnan P, Moirangthem A, Nayak SS, Shukla A, Mathew M, Girisha KM. Radhakrishnan P, et al. Among authors: shukla a. Clin Dysmorphol. 2019 Jan;28(1):17-21. doi: 10.1097/MCD.0000000000000248. Clin Dysmorphol. 2019. PMID: 30303820

3

GATAD2B-related intellectual disability due to parental mosaicism and review of literature.

Kaur P, Mishra S, Rajesh SM, Girisha KM, Shukla A. Kaur P, et al. Among authors: shukla a. Clin Dysmorphol. 2019 Oct;28(4):190-194. doi: 10.1097/MCD.0000000000000288. Clin Dysmorphol. 2019. PMID: 31205050 Review.

4

Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families.

Radhakrishnan P, Jacob P, Nayak SS, Gowrishankar K, Prakash Soni J, Shukla A, Girisha KM. Radhakrishnan P, et al. Among authors: shukla a. Clin Dysmorphol. 2020 Jul;29(3):123-126. doi: 10.1097/MCD.0000000000000324. Clin Dysmorphol. 2020. PMID: 32282352

5

Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.

Upadhyai P, Amiri EF, Guleria VS, Bielas SL, Girisha KM, Shukla A. Upadhyai P, et al. Among authors: shukla a. Clin Dysmorphol. 2020 Jul;29(3):127-131. doi: 10.1097/MCD.0000000000000327. Clin Dysmorphol. 2020. PMID: 32459673 Free PMC article. Review.

6

Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies.

Mishra S, Girisha KM, Shukla A. Mishra S, et al. Among authors: shukla a. Clin Dysmorphol. 2021 Jan;30(1):1-5. doi: 10.1097/MCD.0000000000000360. Clin Dysmorphol. 2021. PMID: 33229923 Free PMC article.

7

NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature.

Majethia P, Mishra S, Rao LP, Rao R, Shukla A. Majethia P, et al. Among authors: shukla a. Eur J Med Genet. 2021 Sep;64(9):104266. doi: 10.1016/j.ejmg.2021.104266. Epub 2021 Jun 20. Eur J Med Genet. 2021. PMID: 34161859 Free PMC article. Review.

8

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.

Kaur P, do Rosario MC, Hebbar M, Sharma S, Kausthubham N, Nair K, A S, Bhat Y R, Lewis LES, Nampoothiri S, Patil SJ, Suresh N, Bijarnia Mahay S, Dua Puri R, Pai S, Kaur A, Kc R, Kamath N, Bajaj S, Kumble A, Shetty R, Shenoy R, Kamate M, Shah H, Muranjan MN, Bl Y, Avabratha KS, Subramaniam G, Kadavigere R, Bielas S, Girisha KM, Shukla A. Kaur P, et al. Among authors: a s, shukla a. Clin Genet. 2021 Nov;100(5):542-550. doi: 10.1111/cge.14037. Epub 2021 Jul 30. Clin Genet. 2021. PMID: 34302356 Free PMC article.

9

KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature.

Narayanan DL, Somashekar PH, Majethia P, Shukla A. Narayanan DL, et al. Among authors: shukla a. Clin Dysmorphol. 2022 Jan 1;31(1):6-10. doi: 10.1097/MCD.0000000000000394. Clin Dysmorphol. 2022. PMID: 34866617 Free PMC article. Review.

10

Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene.

Mohite K, Nair KV, Sapare A, Bhat V, Shukla A, Kekatpure M, Patil SJ. Mohite K, et al. Among authors: shukla a. Indian J Pediatr. 2022 Jun;89(6):594-596. doi: 10.1007/s12098-021-04000-3. Epub 2022 Jan 14. Indian J Pediatr. 2022. PMID: 35032020 Free PMC article.

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