Suchergebnisse - "Mandal, Kausik"

PubPharm (13)

1

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

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 (Berlin, Germany) | 2022

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

3

Role of miRNA polymorphism in recurrent pregnancy loss : a systematic review and meta-analysis

enthalten in: Biomarkers in medicine | 2022

von Srivastava, P. | Bamba, C. | Chopra, S. | +1

4

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

5

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

6

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

7

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

8

Complex chromosomal rearrangement involving five chromosomes : deciphering genomic imbalances in an apparently balanced chromosomal translocation

enthalten in: Clinical dysmorphology | 2016

von Mandal, K. | Agarwal, M. | Boggula, V. | +2

9

Hunter Syndrome in Northern India : Clinical features and Mutation Spectrum

enthalten in: Indian pediatrics | 2016

von Narayanan, D. | Srivastava, P. | Mandal, K. | +2

CommentIn: Indian Pediatr. 2016 Feb;53(2):117. - PMID 26897141

10

A Defective Oxidative Burst and Impaired Antigen Presentation are Hallmarks of Human Visceral Leishmaniasis

enthalten in: Journal of clinical immunology | 2015

von Roy, S. | Mukhopadhyay, D. | Mukherjee, S. | +12