Suchergebnisse - "Sheth, Jayesh"

PubPharm (192)

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

48th annual meeting and international conference of the Indian Society of Human Genetics 2024 : fostering collaborations within rare disease research community

enthalten in: The Lancet regional health. Southeast Asia | 2024

von Sheth, J. | Sheth, H. | Sheth, F. | +4

3

Non-immune hydrops fetalis due to infantile sialidosis

enthalten in: Pediatrics and neonatology | 2024

von Panigrahi, I. | Grover, S. | Hiranandani, M. | +1

4

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

5

Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India : evidence supporting whole exome sequencing as first tier test

enthalten in: BMC neurology | 2023

von Sheth, F. | Shah, J. | Jain, D. | +15

6

Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test

enthalten in: BMC neurology | 2023

von Sheth, F. | Shah, J. | Jain, D. | +15

7

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

8

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

9

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.

10

A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype : a case report

enthalten in: BMC neurology | 2023

von Sheth, F. | Shah, J. | Patel, K. | +4

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