Resultados da busca - Aadhira Nair

An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report por Shruti Bajaj, Purnima Satoskar, Aadhira Nair, Frenny Sheth, Jayesh Sheth, Harsh Sheth

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Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review por Jayesh Sheth, Siddharth Shah, Chaitanya Datar, Kaveri Bhatt, Pooja Raval, Aadhira Nair, Deepika Jain, Jhanvi Shah, Frenny Sheth, Harsh Sheth

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