Suchergebnisse - "Mandal, Kausik"

PubPharm (158)

11

Congenital nephrotic syndrome with diffuse mesangial sclerosis caused by compound heterozygous mutation in LAMA5 gene

enthalten in: Pediatric nephrology | 2023

von Deepthi, B. | Sivakumar, R. | Krishnasamy, S. | +3

12

Clinical characteristics, genetic profile and short-term outcomes of children with primary hyperoxaluria type 2: a nationwide experience

enthalten in: Pediatric nephrology | 2023

von Krishnasamy, S. | Deepthi, B. | Kamath, N. | +10

13

Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis

enthalten in: The Indian journal of medical research | 2023

von Pasumarthi, D. | Ranganath, P. | Mandal, K. | +3

14

MPV17 mutation-related mitochondrial DNA depletion syndrome : A case series in infants

enthalten in: Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology | 2023

von Samanta, A. | Srivastava, A. | Mandal, K. | +2

15

Red cell alloimmunization and associated risk factors in multiply transfused thalassemia patients : A prospective cohort study conducted at a tertiary care center in Northern India

enthalten in: Asian journal of transfusion science | 2023

von Yadav, B. | Chaudhary, R. | Elhence, P. | +4

16

Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data

enthalten in: Prenatal diagnosis | 2023

von Saxena, D. | Srivastava, S. | Maurya, R. | +3

17

An Infant with Hypotonia and Respiratory Distress

enthalten in: NeoReviews | 2023

von Dwivedi, M. | Naranje, K. | Mandal, K. | +1

18

Neurodegeneration with brain iron accumulation : a case series highlighting phenotypic and genotypic diversity in 20 Indian families

enthalten in: Neurogenetics | 2023

von Sait, H. | Srivastava, S. | Pandey, M. | +10

19

MPV17 mutation–related mitochondrial DNA depletion syndrome: A case series in infants

enthalten in: Indian journal of gastroenterology | 2023

von Samanta, A. | Srivastava, A. | Mandal, K. | +2

20

MPV17 mutation–related mitochondrial DNA depletion syndrome: A case series in infants

enthalten in: Indian journal of gastroenterology | 2023

von Samanta, A. | Srivastava, A. | Mandal, K. | +2