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Bhavsar, Riddhi
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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

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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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/..
 
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4

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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5

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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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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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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/..
 
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12

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/..
 
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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/..
 
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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/..
 
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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/..
 
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