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Ashwin Dalal
Ashwin Dalal
Head, Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad
Dirección de correo verificada de cdfd.org.in - Página principal
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Genomic characterization and epidemiology of an emerging SARS-CoV-2 variant in Delhi, India
MS Dhar, R Marwal, R Vs, K Ponnusamy, B Jolly, RC Bhoyar, V Sardana, ...
Science 374 (6570), 995-999, 2021
3072021
Coffin–Siris syndrome is a SWI/SNF complex disorder
Y Tsurusaki, N Okamoto, H Ohashi, S Mizuno, N Matsumoto, Y Makita, ...
Clinical genetics 85 (6), 548-554, 2014
1502014
Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in southern region of India: report and review
UR Dutta, P Rajitha, VK Pidugu, AB Dalal
Journal of assisted reproduction and genetics 28, 145-149, 2011
1372011
Fertility in men with Down syndrome: a case report
M Pradhan, A Dalal, F Khan, S Agrawal
Fertility and sterility 86 (6), 1765. e1-1765. e3, 2006
1112006
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia
A Dalal, SL Bhavani G, PP Togarrati, T Bierhals, MR Nandineni, S Danda, ...
American Journal of Medical Genetics Part A 158 (11), 2820-2828, 2012
802012
Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism
FL Harms, KM Girisha, AA Hardigan, F Kortüm, A Shukla, M Alawi, A Dalal, ...
The American Journal of Human Genetics 100 (1), 117-127, 2017
762017
Immunization status of children in Goa
B Order
Birth 1 (86.6), 12-2, 2005
592005
Morphometric analysis of face in dysmorphology
AB Dalal, SR Phadke
Computer methods and programs in biomedicine 85 (2), 165-172, 2007
562007
Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI
PN Kantaputra, H Kayserili, Y Güven, W Kantaputra, MC Balci, ...
Journal of inherited metabolic disease 37, 263-268, 2014
552014
H syndrome: novel and recurrent mutations in SLC29A3
TP Priya, N Philip, V Molho‐Pessach, T Busa, A Dalal, A Zlotogorski
British Journal of Dermatology 162 (5), 1132-1134, 2010
472010
Spectrum of lysosomal storage disorders at a medical genetics center in northern India
PK Verma, P Ranganath, AB Dalal, SR Phadke
Indian pediatrics 49, 799-804, 2012
462012
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation
J Sheth, R Bhavsar, M Mistri, D Pancholi, A Bavdekar, A Dalal, ...
BMC medical genetics 20, 1-11, 2019
442019
Mutations in patients with osteogenesis imperfecta from consanguineous Indian families
J Stephen, KM Girisha, A Dalal, A Shukla, H Shah, P Srivastava, U Kornak, ...
European journal of medical genetics 58 (1), 21-27, 2015
432015
GALNS mutations in Indian patients with mucopolysaccharidosis IVA
AM Bidchol, A Dalal, H Shah, S Nampoothiri, M Kabra, N Gupta, S Danda, ...
American Journal of Medical Genetics Part A 164 (11), 2793-2801, 2014
432014
ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation
M Alber, VM Kalscheuer, E Marco, E Sherr, G Lesca, M Till, G Gradek, ...
Neurology: Genetics 3 (3), e148, 2017
412017
Chromosomal abnormalities in amenorrhea: a retrospective study and review of 637 patients in South India
ABD DM
Archives of Iranian medicine 16 (5), 267, 2013
392013
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy
GSL Bhavani, H Shah, A Shukla, N Gupta, K Gowrishankar, AP Rao, ...
American journal of medical genetics Part A 170 (2), 410-417, 2016
382016
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta
J Stephen, A Shukla, A Dalal, KM Girisha, H Shah, N Gupta, M Kabra, ...
American journal of medical genetics Part A 164 (6), 1482-1489, 2014
352014
Breakpoint mapping of a novel de novo translocation t (X; 20)(q11. 1; p13) by positional cloning and long read sequencing
UR Dutta, SN Rao, VK Pidugu, VS Vineeth, A Bhattacherjee, AD Bhowmik, ...
Genomics 111 (5), 1108-1114, 2019
342019
Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis
A Shukla, A Das Bhowmik, M Hebbar, KV Rajagopal, KM Girisha, N Gupta, ...
Journal of human genetics 63 (1), 19-25, 2018
342018
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