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Bhavsar, Riddhi A.
32
results:
Search for persons
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Online (32)
Mediatypes
Articles (Online) (21)
Bookchapter (Online) (3)
OpenAccess-fulltext (8)
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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
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/..
?
3
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/..
?
4
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/..
?
5
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/..
?
6
Identification and characterization of 30 novel pathogenic ..:
Pasumarthi, Divya
;
Gupta, Neerja
;
Sheth, Jayesh
...
Journal of Human Genetics. 65 (2020) 11 - p. 971-984 , 2020
Link:
https://doi.org/10.1038/..
?
7
Gaucher disease: single gene molecular characterization of ..:
Sheth, Jayesh
;
Bhavsar, Riddhi
;
Mistri, Mehul
...
BMC Medical Genetics. 20 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1186/..
?
8
Rare cause of Hemophagocytic Lymphohistiocytosis due to mut..:
Sheth, Jayesh
;
Patel, Akash
;
Shah, Raju
...
BMC Pediatrics. 19 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1186/..
?
9
Batten disease: biochemical and molecular characterization ..:
Sheth, Jayesh
;
Mistri, Mehul
;
Bhavsar, Riddhi
...
BMC Neurology. 18 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1186/..
?
10
A case of Raine syndrome presenting with facial dysmorphy a..:
Sheth, Jayesh
;
Bhavsar, Riddhi
;
Gandhi, Ajit
..
BMC Medical Genetics. 19 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1186/..
?
11
Biochemical and molecular characterization of adult patient..:
Sheth, Jayesh
;
Pancholi, Dhairya
;
Mistri, Mehul
...
BMC Medical Genetics. 19 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1186/..
?
12
Harlequin ichthyosis due to novel splice site mutation in t..:
Sheth, Jayesh J.
;
Bhavsar, Riddhi
;
Patel, Dhairya
..
International Journal of Dermatology. 57 (2018) 4 - p. 428-433 , 2018
Link:
https://doi.org/10.1111/..
?
13
Novel LINS1 missense mutation in a family with non‐syndromi..:
Sheth, Jayesh
;
Ranjan, Gyan
;
Shah, Krati
..
American Journal of Medical Genetics Part A. 173 (2017) 4 - p. 1041-1046 , 2017
Link:
https://doi.org/10.1002/..
?
14
Molecular characterization and identification of novel muta..:
Bhavsar, Riddhi A.
;
Sheth, Jayesh J.
;
Mistri, Mehul A.
..
Molecular Genetics and Metabolism. 117 (2016) 2 - p. S28 , 2016
Link:
https://doi.org/10.1016/..
?
15
GM2 gangliosidosis AB variant: novel mutation from India – ..:
Sheth, Jayesh
;
Datar, Chaitanya
;
Mistri, Mehul
...
BMC Pediatrics. 16 (2016) 1 - p. , 2016
Link:
https://doi.org/10.1186/..
1-15