Anju Shukla

7PUBLICATIONS
10CO-AUTHORS
Central nervous systemNeurogeneticsAnthropological geneticsOrganic green chemistryMedical biochemistry - proteins and peptides (incl. medical proteomics)
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Publications (7)

|Jan 05, 2024
c.202_204del in NUP214 causes late onset form of febrile encephalopathy.

Sheeba Farooqui, Dhanya Lakshmi Narayanan, Selinda Mascarenhas

|Oct 12, 2020
Trichothiodystrophy type 4 in an Indian family.

Shruti Pande, Anju Shukla, Katta Mohan Girisha

|Sep 01, 2020
Bosley-Salih-Alorainy syndrome in patients from India.

Siddaramappa J Patil, Gadabanahalli Ashok Karthik, Gandham SriLakshmi Bhavani

|Nov 23, 2019
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.

Katta M Girisha, Gandham S Bhavani, Hitesh Shah

|Apr 23, 2018
A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ.

Anju Shukla, Russell P Saneto, Malavika Hebbar

|Apr 23, 2018
Williams-Beuren syndrome in diverse populations.

Paul Kruszka, Antonio R Porras, Deise Helena de Souza

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Frequent Collaborators

5 joint publications

Katta Mohan Girisha

2 joint publications

Siddaramappa J Patil

1 joint publications

Paul Kruszka

1 joint publications

Ho-Ming Luk