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1.
Late onset Pompe Disease in India - Beyond the Caucasian phenotype.
Neuromuscul Disord
; 31(5): 431-441, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33741225
2.
Co-inheritance of pathogenic variants in PKD1 and PKD2 genes presenting as severe antenatal phenotype of autosomal dominant polycystic kidney disease.
Eur J Med Genet
; 63(3): 103734, 2020 Mar.
Article
in English
| MEDLINE | ID: mdl-31349084
3.
Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients.
Mol Genet Metab Rep
; 22: 100561, 2020 Mar.
Article
in English
| MEDLINE | ID: mdl-31956508
4.
Genetic analysis of familial hypercholesterolemia in Asian Indians: A single-center study.
J Clin Lipidol
; 14(1): 35-45, 2020.
Article
in English
| MEDLINE | ID: mdl-32044282
5.
Familial Hypercholesterolemia: Cascade Screening in Children and Relatives of the Affected.
Indian J Pediatr
; 85(5): 339-343, 2018 May.
Article
in English
| MEDLINE | ID: mdl-29450819
6.
Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.
Atherosclerosis
; 255: 31-36, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27816806
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