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Anju Shukla

Manipal University
Kasturba Medical College, Manipal

168

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1159

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KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature

2021 Clinical Dysmorphology
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Expanding the electro-clinical phenotype of CARS2associated neuroregression

2021
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Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene.

2021 Journal of Human Genetics
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IoT based Forest Fire Detection System in Cloud Paradigm

2021
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Review for "Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome"

2021
- Anju Shukla
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Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.

2021 Clinical Genetics
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Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.

2021 Clinical Genetics
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Report of rapid diagnosis and precise management of MMADHC-related intracellular cobalamin defect.

2021 Case Reports
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Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

2021 Translational Psychiatry
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Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome.

2021 American Journal of Medical Genetics Part A
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