Suchergebnisse - "Mandal, Kausik"

PubPharm (8)

1

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

enthalten in: Pediatric nephrology (Berlin, Germany) | 2022

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

2

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

3

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

4

Clinical and Mutation Spectra of Cockayne Syndrome in India

enthalten in: Neurology India | 2021

von Narayanan, D. | Tuteja, M. | McIntyre, A. | +6

CommentIn: Neurol India. 2021 Mar-Apr;69(2):367-368. - PMID 33904454

5

Spondyloepiphyseal dysplasia Omani type : CHST3 mutation spectrum and phenotypes in three Indian families

enthalten in: American journal of medical genetics. Part A | 2017

von Srivastava, P. | Pandey, H. | Agarwal, D. | +2

6

Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux

enthalten in: Journal of genetics | 2016

von SRIVASTAVA, P. | TUTEJA, M. | DALAL, A. | +2

7

Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux

enthalten in: Journal of genetics | 2016

von SRIVASTAVA, P. | TUTEJA, M. | DALAL, A. | +2

8

Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease

enthalten in: American journal of medical genetics. Part A | 2016

von Ranganath, P. | Matta, D. | Bhavani, G. | +19

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