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Nair, Aadhira
10
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
7
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/..
?
8
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/..
?
9
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/..
?
10
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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