A. D. Bhowmik

发表

Role of gene–gene/gene–environment interaction in the etiology of eastern Indian ADHD probands

Kanyakumarika Sarkar, P. Ghosh, S. Sinha, 2011, Progress in Neuro-Psychopharmacology and Biological Psychiatry.

Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing.

A. Dalal, A. D. Bhowmik, U. Dutta, 2019, Genomics.

Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis and polydactyly

S. Phadke, A. Dalal, A. D. Bhowmik, 2017, bioRxiv.

Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing

A. Dalal, S. Aggarwal, A. D. Bhowmik, 2016, Neuromuscular Disorders.

A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum

A. Dalal, S. Aggarwal, A. D. Bhowmik, 2016, American journal of medical genetics. Part A.

Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient

A. Dalal, S. Aggarwal, A. D. Bhowmik, 2016, Indian Journal of Pediatrics.

Screening of rural children in West Bengal for fragile-X syndrome.

S. Sinha, K. Mukhopadhyay, M. Das, 2009, The Indian journal of medical research.

Association of XRCC1, XRCC3, and NAT2 polymorphisms with the risk of oral submucous fibrosis among eastern Indian population.

K. Chaudhuri, K. Mukhopadhyay, A. D. Bhowmik, 2012, Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology.

Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders

S. Phadke, A. Dalal, A. D. Bhowmik, 2016, American journal of medical genetics. Part A.

Role of functional dopaminergic gene polymorphisms in the etiology of idiopathic intellectual disability

A. Saha, S. Chaudhury, S. Sinha, 2011, Progress in Neuro-Psychopharmacology and Biological Psychiatry.

Analysis and Prioritisation of Potential Gene Variants Powered by Semantic Intelligence

Asha Subramanian, Aneek Das Bhowmik, Gunjan Pattnayak, 2020, COMAD/CODS.

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C

K. Kandaswamy, D. Trujillano, A. Rolfs, 2016, American journal of medical genetics. Part A.

Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family

S. Phadke, Divya Agarwal, A. Dalal, 2015, The Indian journal of medical research.

Autopsy findings in EPG5‐related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus

A. Dalal, S. Aggarwal, A. D. Bhowmik, 2018, American Journal of Medical Genetics. Part A.

A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum

A. Dalal, S. Aggarwal, A. D. Bhowmik, 2016, American journal of medical genetics. Part A.

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C

K. Kandaswamy, D. Trujillano, A. Rolfs, 2016, American journal of medical genetics. Part A.