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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.
Indian Journal of Pediatrics
|
March 23, 2026
Experience of Prenatal Diagnosis for β-Thalassemia and Major Hemoglobinopathies in the Last Decade from Seven Tertiary-Care Referral Centers in India
Reena Das, Anita Nadkarni, Sudha Kohli, 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.
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.
American Journal of Medical Genetics. Part A
|
September 28, 2020
Rubinstein-Taybi syndrome in diverse populations
Cedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer, et al.
American Journal of Medical Genetics. Part A
|
December 20, 2019
Turner syndrome in diverse populations
Paul Kruszka, Yonit A Addissie, Cedrik Tekendo-Ngongang, et al.
American Journal of Medical Genetics. Part A
|
April 23, 2018
Williams-Beuren syndrome in diverse populations
Paul Kruszka, Antonio R Porras, Deise Helena de Souza, et al.
American Journal of Medical Genetics. Part A
|
June 28, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms
Maninder Kaur, Justin Blair, Batsal Devkota, et al.
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Search research articles
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Showing results (231-240 of 238) with videos related to
Sort By:
Page
of 24
You have reached the last page of results.
This site can display upto 238 results.
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.
Indian Journal of Pediatrics
|
March 23, 2026
Experience of Prenatal Diagnosis for β-Thalassemia and Major Hemoglobinopathies in the Last Decade from Seven Tertiary-Care Referral Centers in India
Reena Das, Anita Nadkarni, Sudha Kohli, 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.
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.
American Journal of Medical Genetics. Part A
|
September 28, 2020
Rubinstein-Taybi syndrome in diverse populations
Cedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer, et al.
American Journal of Medical Genetics. Part A
|
December 20, 2019
Turner syndrome in diverse populations
Paul Kruszka, Yonit A Addissie, Cedrik Tekendo-Ngongang, et al.
American Journal of Medical Genetics. Part A
|
April 23, 2018
Williams-Beuren syndrome in diverse populations
Paul Kruszka, Antonio R Porras, Deise Helena de Souza, et al.
American Journal of Medical Genetics. Part A
|
June 28, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms
Maninder Kaur, Justin Blair, Batsal Devkota, et al.
Page
of 24