Suchergebnisse - "Nair, Aadhira"

PubPharm (15)

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

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

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

4

Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene : case report and review

enthalten in: BMC pediatrics | 2023

von Sheth, J. | Shah, S. | Datar, C. | +7

5

Lysosomal storage disorders : from biology to the clinic with reference to India

enthalten in: The Lancet regional health. Southeast Asia | 2023

von Sheth, J. | Nair, A. | Jee, B.

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

7

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

8

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

9

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

10

An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene : a case report

enthalten in: BMC pediatrics | 2022

von Bajaj, S. | Satoskar, P. | Nair, A. | +3