Search Results - Jayesh Sheth

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    Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants Autoría: Sigurd Dobloug, Ulrika Kjellström, Glenn Anderson, Emily Gardner, Sara E. Mole, Jayesh Sheth, Andreas Puschmann

    Published 2024
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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    Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature Autoría: Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth

    Published 2024
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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    KBG Syndrome in 16 Indian Individuals Autoría: Shruti Bajaj, Sheela Nampoothiri, Roshni Chugh, Jayesh Sheth, Frenny Sheth, Harsh Sheth, Vinu Narayan, Ameya Deshpande, Anaita Hegde, Aradhana Dwivedi, Dhanya Yeshodharan, Indu Khosla, Madhukar Mittal, Mahesh Kore, Vedam Ramprasad, Anbu Kayalvizhi C., Katta M. Girisha

    Published 2024
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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