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Nair, Aadhira
15  results:
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1

Lysosomal storage disorders identified in adult population ..:

Sheth, Jayesh ; Nair, Aadhira ; Bhavsar, Riddhi...
JIMD Reports.  65 (2024)  2 - p. 85-101 , 2024
Link: https://doi.org/10.1002/..
 
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2

Burden of rare genetic disorders in India: twenty-two years..:

Sheth, Jayesh ; Nair, Aadhira ; Sheth, Frenny...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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3

Development, validation and application of single molecule ..:

Sheth, Harsh ; Nair, Aadhira ; Bhavsar, Riddhi...
Human Genomics.  18 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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4

Late infantile form of multiple sulfatase deficiency with a..:

Sheth, Jayesh ; Shah, Siddharth ; Datar, Chaitanya...
BMC Pediatrics.  23 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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5

Late infantile and adult‐onset metachromatic leukodystrophy..:

Sheth, Jayesh ; Nair, Aadhira ; Bhavsar, Riddhi...
JIMD Reports.  64 (2023)  4 - p. 265-273 , 2023
Link: https://doi.org/10.1002/..
 
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6

Lysosomal storage disorders: from biology to the clinic wit..:

Sheth, Jayesh ; Nair, Aadhira ; Jee, Babban
The Lancet Regional Health - Southeast Asia.  9 (2023)  - p. 100108 , 2023
Link: https://doi.org/10.1016/..
 
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7

Late infantile form of multiple sulfatase deficiency with a..:

Jayesh Sheth ; Siddharth Shah ; Chaitanya Datar...
https://doi.org/10.1186/s12887-023-03955-w.  , 2023
Link: https://doi.org/10.1186/..
 
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8

Late infantile and adult‐onset metachromatic leukodystrophy..:

Jayesh Sheth ; Aadhira Nair ; Riddhi Bhavsar...
https://doi.org/10.1002/jmd2.12374.  , 2023
Link: https://doi.org/10.1002/..
 
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9

Juvenile tay sachs disease due to compound heterozygous mut..:

Sheth, Jayesh ; Mohapatra, Ira ; Patra, Gangotri...
Annals of Indian Academy of Neurology.  25 (2022)  3 - p. 502 , 2022
Link: https://doi.org/10.4103/..
 
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10

An ultra-rare case of immunoskeletal dysplasia with neurode..:

Bajaj, Shruti ; Satoskar, Purnima ; Nair, Aadhira...
BMC Pediatrics.  22 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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11

The GALNS p.P77R variant is a probable Gujarati-Indian foun..:

Sheth, Harsh ; Naik, Premal ; Shah, Maulin...
BMC Genomics.  23 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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12

An ultra-rare case of immunoskeletal dysplasia with neurode..:

Shruti Bajaj ; Purnima Satoskar ; Aadhira Nair...
https://doi.org/10.1186/s12887-022-03143-2.  , 2022
Link: https://doi.org/10.1186/..
 
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13

The GALNS p.P77R variant is a probable Gujarati-Indian foun..:

Harsh Sheth ; Premal Naik ; Maulin Shah...
https://doi.org/10.1186/s12864-022-08693-4.  , 2022
Link: https://doi.org/10.1186/..
 
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14

Case Report: Recurrent Variant c.298 TA in CCN6 Gene Found ..:

Sheth, Harsh ; Shah, Jhanvi ; Nair, Aadhira..
Frontiers in Genetics.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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15

Case Report: Recurrent Variant c.298 TA in CCN6 Gene Found ..:

Harsh Sheth ; Jhanvi Shah ; Aadhira Nair..
https://www.frontiersin.org/articles/10.3389/fgene.2021.724824/full.  , 2021
Link: https://doi.org/10.3389/..
 
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