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The Indian Journal of Medical Research
|
November 27, 2015
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI
Anusha Uttarilli, Prajnya Ranganath, S Jamal Md Nurul Jain, et al.
Experimental Eye Research
|
March 21, 2016
Genetic analysis of consanguineous families presenting with congenital ocular defects
Ehsan Ullah, Muhammad Arif Nadeem Saqib, Sundus Sajid, et al.
American Journal of Medical Genetics. Part A
|
December 4, 2021
Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India
Ajay Kumar Chaudhary, Aishwarya Gholse, Hampapathalu Adimurthy Nagarajaram, et al.
Journal of Pediatric Genetics
|
September 10, 2021
Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1
Parag M Tamhankar, Lakshmi Vasudevan, Pratima Kondurkar, et al.
Journal of Pediatric Genetics
|
December 1, 2021
Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population
Shruthi Sudarshan, Atin Kumar, Arun Gupta, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2012
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia
Ashwin Dalal, Sri Lakshmi Bhavani G, Padma Priya Togarrati, et al.
The Journal of Clinical Investigation
|
March 14, 2017
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
Damian J Ralser, F Buket Ü Basmanav, Aylar Tafazzoli, et al.
Gene
|
November 7, 2025
Profile of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants across India and their variability in different geographic regions
Madhumita Roy Chowdhury, Indu Kumari, Kana Ram Jat, et al.
American Journal of Hematology
|
August 2, 2017
Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial
Pramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
American Journal of Hematology
|
June 23, 2021
Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results
Pramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
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Search research articles
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Showing results (91-100 of 116) with videos related to
Sort By:
Page
of 12
The Indian Journal of Medical Research
|
November 27, 2015
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI
Anusha Uttarilli, Prajnya Ranganath, S Jamal Md Nurul Jain, et al.
Experimental Eye Research
|
March 21, 2016
Genetic analysis of consanguineous families presenting with congenital ocular defects
Ehsan Ullah, Muhammad Arif Nadeem Saqib, Sundus Sajid, et al.
American Journal of Medical Genetics. Part A
|
December 4, 2021
Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India
Ajay Kumar Chaudhary, Aishwarya Gholse, Hampapathalu Adimurthy Nagarajaram, et al.
Journal of Pediatric Genetics
|
September 10, 2021
Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1
Parag M Tamhankar, Lakshmi Vasudevan, Pratima Kondurkar, et al.
Journal of Pediatric Genetics
|
December 1, 2021
Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population
Shruthi Sudarshan, Atin Kumar, Arun Gupta, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2012
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia
Ashwin Dalal, Sri Lakshmi Bhavani G, Padma Priya Togarrati, et al.
The Journal of Clinical Investigation
|
March 14, 2017
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
Damian J Ralser, F Buket Ü Basmanav, Aylar Tafazzoli, et al.
Gene
|
November 7, 2025
Profile of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants across India and their variability in different geographic regions
Madhumita Roy Chowdhury, Indu Kumari, Kana Ram Jat, et al.
American Journal of Hematology
|
August 2, 2017
Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial
Pramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
American Journal of Hematology
|
June 23, 2021
Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results
Pramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
Page
of 12