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Amita Moirangthem

Sanjay Gandhi Post Graduate Institute of Medical Sciences

8

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Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.

2021 American Journal of Medical Genetics Part A
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Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants.

2021 International Journal of Laboratory Hematology
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Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B

2021 American Journal of Medical Genetics Part A
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Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum.

2021 European Journal of Medical Genetics
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Carrier frequency of SMN1-related spinal muscular atrophy in north Indian population: The need for population based screening program.

2020 American Journal of Medical Genetics Part A
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