Priyanka Upadhyai

Priyanka Upadhyai

B M L Munjal University - Haryana / India
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 4542857
बी एम एल मुंजाल विश्वविद्यालय
person_outline Priyanka Upadhyai's MOST POPULAR ARTICLES
1-) Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndromeA Shukla, M Hebbar, A Srivastava, R Kadavigere, P Upadhyai, A Kanthi, ...Journal of human genetics 62 (7), 723-727, 2017642017
2-) Modulation of the promoter activation rate dictates the transcriptional response to graded BMP signaling levels in the Drosophila embryoC Hoppe, JR Bowles, TG Minchington, C Sutcliffe, P Upadhyai, M Rattray, ...Developmental cell 54 (6), 727-741. e7, 2020292020
3-) Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literatureA Shukla, P Upadhyai, J Shah, K Neethukrishna, S Bielas, KM GirishaEuropean journal of medical genetics 60 (2), 118-123, 2017292017
4-) Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in IndiaA Uttarilli, H Shah, GSL Bhavani, P Upadhyai, A Shukla, KM GirishaBone 120, 204-211, 2019222019
5-) Bi‐allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasiaPH Somashekar, P Kaur, J Stephen, VS Guleria, R Kadavigere, ...Clinical genetics 99 (4), 594-600, 2021182021