Stebėti
Ashwin Dalal
Ashwin Dalal
Head, Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad
Patvirtintas el. paštas cdfd.org.in - Pagrindinis puslapis
Pavadinimas
Cituota
Cituota
Metai
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
3482021
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
1572014
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
1382011
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
1162006
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
822017
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
812012
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
582014
Morphometric analysis of face in dysmorphology
AB Dalal, SR Phadke
Computer methods and programs in biomedicine 85 (2), 165-172, 2007
582007
Immunization status of children in Goa.
A Dalal, MP Silveira
Indian Pediatr, 2005
582005
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
532019
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
492012
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
492010
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
472015
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
452017
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
452016
GALNS mutations in Indian patients with mucopolysaccharidosis IVA
AM Bidchol, A Dalal, H Shah, S S, S Nampoothiri, M Kabra, N Gupta, ...
American Journal of Medical Genetics Part A 164 (11), 2793-2801, 2014
452014
Chromosomal abnormalities in amenorrhea: a retrospective study and review of 637 patients in South India
UR Dutta, R Ponnala, VK Pidugu, AB Dalal
Archives of Iranian medicine 16 (5), 0-0, 2013
432013
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians
N Kausthubham, A Shukla, N Gupta, GS Bhavani, S Kulshrestha, ...
Human mutation 42 (4), e15-e61, 2021
412021
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
402014
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
392019
Sistema negali atlikti operacijos. Bandykite vėliau dar kartą.
Straipsniai 1–20