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PubPharm (37)
1
Lysosomal storage disorders identified in adult population from India : Experience of a tertiary genetic centre and review of literature
enthalten in:
JIMD reports
| 2024
von
Sheth, J.
|
Nair, A.
|
Bhavsar, R.
| +9
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2
Lysosomal storage disorders identified in adult population from India : Experience of a tertiary genetic centre and review of literature
enthalten in:
JIMD Reports
| 2024
von
Sheth, J.
|
Nair, A.
|
Bhavsar, R.
| +9
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3
Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene : Case report from India
enthalten in:
JIMD reports
| 2023
von
Sheth, J.
|
Nair, A.
|
Bhavsar, R.
| +5
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4
Assessing utility of clinical exome sequencing in diagnosis of rare idiopathic neurodevelopmental disorders in Indian population
enthalten in:
ResearchSquare.com
| 2022
von
Sheth, H.
|
Pancholi, D.
|
Bhavsar, R.
| +7
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5
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome
enthalten in:
BMC genomics
| 2022
von
Sheth, H.
|
Naik, P.
|
Shah, M.
| +4
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6
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome
enthalten in:
BMC genomics
| 2022
von
Sheth, H.
|
Naik, P.
|
Shah, M.
| +4
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7
Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors
enthalten in:
Annals of Indian Academy of Neurology
| 2022
von
Sheth, J.
|
Mohapatra, I.
|
Patra, G.
| +4
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8
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome
enthalten in:
ResearchSquare.com
| 2022
von
Sheth, H.
|
Naik, P.
|
Shah, M.
| +4
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9
Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population
enthalten in:
Neurology India
| 2021
von
Sheth, H.
|
Pancholi, D.
|
Bhavsar, R.
| +7
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10
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III
enthalten in:
Journal of human genetics
| 2020
von
Pasumarthi, D.
|
Gupta, N.
|
Sheth, J.
| +20
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2020-
26
2010-2019
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