Search research articles
Contact Us
Filters
Showing results (71-80 of 80) with videos related to
Page
of 8
Sort By:
You have reached the last page of results.
This site can display upto 80 results.
Orphanet Journal of Rare Diseases
|
September 2, 2025
Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India
Jayesh Sheth, Tejasvi Dhondekar, Manali Ajagekar, et al.
BMC Medical Genetics
|
February 16, 2019
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation
Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, et al.
European Journal of Medical Genetics
|
February 10, 2022
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II
Neha Agrawal, Gaurav Verma, Deepti Saxena, et al.
Clinical Genetics
|
August 22, 2024
SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?
Marlène Malbos, Gabriella Vera, Harsh Sheth, et al.
Journal of Human Genetics
|
July 12, 2020
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III
Divya Pasumarthi, Neerja Gupta, Jayesh Sheth, et al.
Human Mutation
|
July 17, 2021
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency
Dipti Deshpande, Shailesh Kumar Gupta, Asodu Sandeep Sarma, et al.
Orphanet Journal of Rare Diseases
|
January 28, 2026
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Human Genomics
|
May 10, 2024
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Journal of Neurology
|
May 10, 2019
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients
Aparna Ganapathy, Avshesh Mishra, Megha Rani Soni, et al.
Orphanet Journal of Rare Diseases
|
August 13, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre
Jayesh Sheth, Aadhira Nair, Frenny Sheth, et al.
Page
of 8
Search research articles
Search
Showing results (71-80 of 80) with videos related to
Sort By:
Page
of 8
You have reached the last page of results.
This site can display upto 80 results.
Orphanet Journal of Rare Diseases
|
September 2, 2025
Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India
Jayesh Sheth, Tejasvi Dhondekar, Manali Ajagekar, et al.
BMC Medical Genetics
|
February 16, 2019
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation
Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, et al.
European Journal of Medical Genetics
|
February 10, 2022
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II
Neha Agrawal, Gaurav Verma, Deepti Saxena, et al.
Clinical Genetics
|
August 22, 2024
SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?
Marlène Malbos, Gabriella Vera, Harsh Sheth, et al.
Journal of Human Genetics
|
July 12, 2020
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III
Divya Pasumarthi, Neerja Gupta, Jayesh Sheth, et al.
Human Mutation
|
July 17, 2021
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency
Dipti Deshpande, Shailesh Kumar Gupta, Asodu Sandeep Sarma, et al.
Orphanet Journal of Rare Diseases
|
January 28, 2026
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Human Genomics
|
May 10, 2024
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Journal of Neurology
|
May 10, 2019
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients
Aparna Ganapathy, Avshesh Mishra, Megha Rani Soni, et al.
Orphanet Journal of Rare Diseases
|
August 13, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre
Jayesh Sheth, Aadhira Nair, Frenny Sheth, et al.
Page
of 8