Suchergebnisse - "Mandal, Kausik"

PubPharm (158)

61

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

enthalten in: Human mutation | 2021

von Kausthubham, N. | Shukla, A. | Gupta, N. | +13

62

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

63

Biallelic rare 17 bp deletion mutation (HBB:c.380_396 del TGCAGGCTGCCTATCAG) in a transfusion depended form of thalassemia

enthalten in: Annals of hematology | 2020

von Tripathi, P. | Agarwal, S. | Gupta, A. | +1

64

Fabry disease in India : A multicenter study of the clinical and mutation spectrum in 54 patients

enthalten in: JIMD reports | 2020

von Nampoothiri, S. | Yesodharan, D. | Bhattacherjee, A. | +17

65

Distal Arthrogryposis : A Clue to the Etiology of Neonatal Cholestasis

enthalten in: Indian journal of pediatrics | 2020

von Rai, A. | Mandal, K. | Saxena, D. | +2

66

Steroid Resistant Nephrotic Syndrome with Clumsy Gait Associated With INF2 Mutation

enthalten in: Indian pediatrics | 2020

von Sinha, R. | Maiti, R. | Das, D. | +1

67

Steroid Resistant Nephrotic Syndrome with Clumsy Gait Associated With INF2 Mutation

enthalten in: Indian pediatrics | 2020

von Sinha, R. | Maiti, R. | Das, D. | +1

68

Steroid Resistant Nephrotic Syndrome with Clumsy Gait Associated With INF2 Mutation

enthalten in: Indian pediatrics | 2020

von Sinha, R. | Maiti, R. | Das, D. | +1

69

Biallelic rare 17 bp deletion mutation (HBB:c.380_396 del TGCAGGCTGCCTATCAG) in a transfusion depended form of thalassemia

enthalten in: Annals of hematology | 2020

von Tripathi, P. | Agarwal, S. | Gupta, A. | +1

70

Biallelic rare 17 bp deletion mutation (HBB:c.380_396 del TGCAGGCTGCCTATCAG) in a transfusion depended form of thalassemia

enthalten in: Annals of hematology | 2020

von Tripathi, P. | Agarwal, S. | Gupta, A. | +1