Suchergebnisse - "Mandal, Kausik"

PubPharm (158)

41

Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study

enthalten in: Pediatric nephrology | 2022

von Sinha, R. | Pradhan, S. | Banerjee, S. | +13

42

COASY related pontocerebellar hypoplasia type 12 : A common Indian mutation with expansion of the phenotypic spectrum

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2022

von Mishra, R. | Kulshreshtha, S. | Mandal, K. | +10

43

Molecular analysis of severe hemophilia B in Indian families : Identification of mutational hotspot and novel variants

enthalten in: International Journal of Laboratory Hematology | 2022

von Agrawal, N. | Kumar, R. | Masih, S. | +7

44

Novel pathogenic variants in an Indian cohort with epidermolysis bullosa : Expanding the genotypic spectrum

enthalten in: European journal of medical genetics | 2021

von Nilay, M. | Saxena, D. | Mandal, K. | +2

45

Clinical, Biochemical, Tumoural and Mutation Profile of VHL- and MEN2A-Associated Pheochromocytoma: A Comparative Study

enthalten in: World journal of surgery | 2021

von Dhanda, M. | Agarwal, A. | Mandal, K. | +6

46

Clinical, Biochemical, Tumoural and Mutation Profile of VHL- and MEN2A-Associated Pheochromocytoma: A Comparative Study

enthalten in: World journal of surgery | 2021

von Dhanda, M. | Agarwal, A. | Mandal, K. | +6

47

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency

enthalten in: Human mutation | 2021

von Deshpande, D. | Gupta, S. | Sarma, A. | +19

48

Molecular spectrum, family screening and genetic counselling of Spinocerebellar Ataxia (SCA) cases in an Indian scenario

enthalten in: Journal of neurogenetics | 2021

von Vishwakarma, P. | Agarwal, S. | Dean, D. | +2

49

Uptake of next-generation sequencing in children with end-stage renal disease secondary to focal segmental glomerulosclerosis and parental decision for kidney transplantation-Experience from a low resource setting : A Retrospective Cohort Study

enthalten in: Pediatric transplantation | 2021

von Sinha, R. | Sarkar, S. | Mandal, K. | +1

50

Genetic heterogeneity of disorders with overgrowth and intellectual disability : Experience from a center in North India

enthalten in: American journal of medical genetics. Part A | 2021

von Moirangthem, A. | Mandal, K. | Saxena, D. | +6