Molecular cytogenetic characterization of chromosomal rearrangements - utility in genetic counseling and research

per Dalal, Ashwin
Publicat 2014

Use of array CGH for molecular characterization of genetic disorders

per Bahal, Ashish, Rajitha, P, Dalal, Ashwin
Publicat 2014

A Novel de novo Balanced Reciprocal Translocation t(18;22) Associated with Recurrent Miscarriages: A Case Report

per Dutta, Usha R., Ponnala, Rajitha, Dalal, Ashwin
Publicat 2014

Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea

per Dutta, Usha R., Pidugu, Vijaya Kumar, Dalal, Ashwin
Publicat 2012

R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease

per Aneja, Aradhana, Sharma, Aditi, Dalal, Ashwin, Sondhi, Vishal
Publicat a BMJ Case Rep (2012)

Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation

per Dutta, Usha R., Pidugu, Vijaya Kumar, Dalal, Ashwin B.
Publicat 2012

Molecular Diagnostics

per Kesari, Akanchha, Dalal, Ashwin, Lal, Girdhari, Pandey, Sachchida Nand
Publicat 2013

Hunter syndrome with late age of presentation: clinical description of a case and review of the literature

per Gupta, Ashish, Uttarilli, Anusha, Dalal, Ashwin, Girisha, Katta M
Publicat a BMJ Case Rep (2015)

Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy

per Verma, Prashant K., Dalal, Ashwin, Mittal, Balraj, Phadke, Shubha R.
Publicat 2012

Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy- coxa vara- pericarditis (CACP) syndrome

per Nandagopalan, Rajashree S., Phadke, Shubha R., Dalal, Ashwin B., Ranganath, Prajnya
Publicat 2014

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

per Dalal, Ashwin, Bhowmik, Aneek D, Agarwal, Divya, Phadke, Shubha R.
Publicat a Indian J Med Res (2015)

Brothers with constrictive pericarditis – A novel mutation in a rare disease

per Patil, Devendra V., Phadke, Milind S., Pahwa, Jivtesh S., Dalal, Ashwin B.
Publicat a Indian Heart J (2016)

Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: report and review

per Dutta, Usha R., Rajitha, P., Pidugu, Vijaya Kumar, Dalal, Ashwin B.
Publicat 2010

Molecular basis of lysosomal storage disorders in India

per Kondurkar, Shweta P, Tamhankar, Parag, Kondurkar, Pratima, Dalal, Ashwin, Sheth, Jayesh
Publicat 2014

Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGS

per Dutta, Usha R., Swamy, Venugopala, Ponnala, Rajitha, Aggarwal, Shagun, Dalal, Ashwin
Publicat a J Reprod Infertil (2019)

Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned?

per Tallapaka, Karthik, Aggarwal, Shagun, Bhattacherjee, Amrita, Das Bhowmik, Aneek, Dalal, Ashwin
Publicat a Mol Syndromol (2019)

Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India

per Ranganath, Prajnya, Sharma, Vishakha, Danda, Sumita, Nandineni, Madhusudan R., Dalal, Ashwin B.
Publicat 2012

A Balanced Reciprocal Translocation T (X;20) in A Girl with Seizures and Intellectual Disability Disrupting ARHGEF9

per Dutta, Usha R, Pidugu, Vijaya Kumar, Kalscheuer, Vera M, Dalal, Ashwin B
Publicat 2014

“Twig-like” cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report

per Nagarajan, Krishnan, Swamiappan, Elango, Anbazhagan, Sathiaprabhu, Dalal, Ashwin, Adithan, Subathra, Krings, Timo
Publicat a Interv Neuroradiol (2018)

Repurposing Pathogenic Variants of DMD Gene and its Isoforms for DMD Exon Skipping Intervention

per Tyagi, Rahul, Kumar, Sumit, Dalal, Ashwin, Mohammed, Faruq, Mohanty, Manju, Kaur, Paramvir, Anand, Akshay
Publicat a Curr Genomics (2019)