Suchergebnisse - "Sheth, Frenny"

PubPharm (163)

1

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

2

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

3

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

4

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

5

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

6

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

7

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

8

Clinical characterization of 72 patients with del(22)(q11.2q11.2) from different ethnic backgrounds

enthalten in: The Egyptian journal of medical human genetics | 2022

von Méndez-Rosado, L. | de León-Ojeda, N. | García, A. | +10

9

Clinical characterization of 72 patients with del(22)(q11.2q11.2) from different ethnic backgrounds

enthalten in: The Egyptian journal of medical human genetics | 2022

von Méndez-Rosado, L. | de León-Ojeda, N. | García, A. | +10

10

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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