Bhat V - Search Results

1

Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation.

Patil SJ, Somashekar PH, Shukla A, Siddaiah S, Bhat V, Girisha KM, Rao PN. Patil SJ, et al. Among authors: bhat v. J Pediatr Genet. 2017 Sep;6(3):198-204. doi: 10.1055/s-0037-1602386. Epub 2017 Apr 24. J Pediatr Genet. 2017. PMID: 28794916 Free PMC article.

2

Confirmation of the Zechi-Ceide syndrome.

Patil SJ, Bhat V, Dalal A, Santosh JS. Patil SJ, et al. Among authors: bhat v. Am J Med Genet A. 2012 Jun;158A(6):1467-71. doi: 10.1002/ajmg.a.35360. Epub 2012 May 14. Am J Med Genet A. 2012. PMID: 22585531

3

Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.

Patil SJ, Rai GK, Bhat V, Ramesh VA, Nagarajaram HA, Matalia J, Phadke SR. Patil SJ, et al. Among authors: bhat v. Am J Med Genet A. 2014 Nov;164A(11):2857-62. doi: 10.1002/ajmg.a.36702. Epub 2014 Aug 5. Am J Med Genet A. 2014. PMID: 25099528

4

Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene.

Patil SJ, Das Bhowmik A, Bhat V, Satidevi Vineeth V, Vasudevamurthy R, Dalal A. Patil SJ, et al. Among authors: bhat v. Am J Med Genet A. 2018 May;176(5):1200-1206. doi: 10.1002/ajmg.a.38659. Am J Med Genet A. 2018. PMID: 29681087 Review.

5

Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79.

Das Bhowmik A, Patil SJ, Deshpande DV, Bhat V, Dalal A. Das Bhowmik A, et al. Among authors: bhat v. J Hum Genet. 2018 Aug;63(8):927-933. doi: 10.1038/s10038-018-0463-6. Epub 2018 May 7. J Hum Genet. 2018. PMID: 29735986

6

Severe caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up.

Kanagasabai K, Bhat V, Pramod GK, Patil SJ, Kiranmayi S. Kanagasabai K, et al. Among authors: bhat v. BJR Case Rep. 2016 Dec 8;3(2):20150356. doi: 10.1259/bjrcr.20150356. eCollection 2017. BJR Case Rep. 2016. PMID: 30363289 Free PMC article.

7

A Case Report of Recurrent Hypokalemic Paralysis-missing the "Period".

Rajadhyax S, Chauhan B, Huded V, Patil SJ, Kannan A, Bhat V, Kannan S. Rajadhyax S, et al. Among authors: bhat v. Neurol India. 2019 Jul-Aug;67(4):1117-1119. doi: 10.4103/0028-3886.266245. Neurol India. 2019. PMID: 31512650 Free article. No abstract available.

8

Bosley-Salih-Alorainy syndrome in patients from India.

Patil SJ, Karthik GA, Bhavani GS, Bhat V, Matalia J, Shah J, Shukla A, Girisha KM. Patil SJ, et al. Among authors: bhat v. Am J Med Genet A. 2020 Nov;182(11):2699-2703. doi: 10.1002/ajmg.a.61809. Epub 2020 Aug 31. Am J Med Genet A. 2020. PMID: 32864817

9

Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants.

Venkatapuram VS, Aggarwal S, Kulkarni AD, Vineeth VS, Bhikaji Dalal A, Bhat V, Kiran L, Patil SJ. Venkatapuram VS, et al. Among authors: bhat v. Am J Med Genet A. 2022 Apr;188(4):1287-1292. doi: 10.1002/ajmg.a.62622. Epub 2022 Jan 6. Am J Med Genet A. 2022. PMID: 34989141

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: bhat v. 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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