Aneek Das Bhowmik

11PUBLICATIONS
6CO-AUTHORS
NanomedicineGene expression (incl. microarray and other genome-wide approaches)NeurogeneticsNeurology and neuromuscular diseasesGene mapping
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (11)

|Oct 22, 2022
Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome.

Neelam Saini, Aneek Das Bhowmik, Sireesha Yareeda

|Nov 20, 2019
Exome sequencing for perinatal phenotypes: The significance of deep phenotyping.

Shagun Aggarwal, Venugopal Satidevi Vineeth, Aneek Das Bhowmik

|Nov 22, 2018
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.

Venugopal S Vineeth, Aneek Das Bhowmik, Surya Balakrishnan

|Jul 31, 2018
Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesis.

Aneek Das Bhowmik, Ashwin Dalal, Ashwani Tandon

|May 09, 2018
Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79.

Aneek Das Bhowmik, Siddaramappa J Patil, Dipti Vijayrao Deshpande

|Apr 23, 2018
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene.

Siddaramappa Jagdish Patil, Aneek Das Bhowmik, Venkatraman Bhat

Pageof 2