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Clinical Genetics
|
October 11, 2019
Skeletal abnormalities are common features in Aymé-Gripp syndrome
Marcello Niceta, Domenico Barbuti, Neerja Gupta, et al.
American Journal of Hematology
|
February 13, 2013
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease
Hadhami Ben Turkia, Derlis E Gonzalez, Norman W Barton, et al.
Endocrine
|
September 19, 2020
Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India
Priyanka Gangodkar, Vaman Khadilkar, P Raghupathy, et al.
Movement Disorders Clinical Practice
|
January 3, 2025
Genetic Landscape of Dystonia in Asian Indians
Arti Saini, Inder Singh, Mukesh Kumar, et al.
JIMD Reports
|
November 18, 2020
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients
Sheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, 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.
Genetics in Medicine Open
|
May 25, 2026
Evaluating and monitoring liver disease severity in glycogen storage disease type IX: Performance of novel and established clinical scores
Anna Paschall, Rebecca L Koch, Alisha M Mavis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 15, 2018
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease
Zoheb B Kazi, Ankit K Desai, R Bradley Troxler, et al.
Journal of Obstetrics and Gynaecology of India
|
November 13, 2018
Single Nucleotide Polymorphism-Based Noninvasive Prenatal Testing: Experience in India
Ishwar Chander Verma, Ratna Puri, Eswarachary Venkataswamy, et al.
Molecular Genetics and Metabolism
|
October 2, 2020
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective
Mohamed A Elmonem, Amaya Belanger-Quintana, Andrea Bordugo, et al.
Page
of 24
Search research articles
Search
Showing results (211-220 of 238) with videos related to
Sort By:
Page
of 24
Clinical Genetics
|
October 11, 2019
Skeletal abnormalities are common features in Aymé-Gripp syndrome
Marcello Niceta, Domenico Barbuti, Neerja Gupta, et al.
American Journal of Hematology
|
February 13, 2013
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease
Hadhami Ben Turkia, Derlis E Gonzalez, Norman W Barton, et al.
Endocrine
|
September 19, 2020
Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India
Priyanka Gangodkar, Vaman Khadilkar, P Raghupathy, et al.
Movement Disorders Clinical Practice
|
January 3, 2025
Genetic Landscape of Dystonia in Asian Indians
Arti Saini, Inder Singh, Mukesh Kumar, et al.
JIMD Reports
|
November 18, 2020
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients
Sheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, 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.
Genetics in Medicine Open
|
May 25, 2026
Evaluating and monitoring liver disease severity in glycogen storage disease type IX: Performance of novel and established clinical scores
Anna Paschall, Rebecca L Koch, Alisha M Mavis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 15, 2018
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease
Zoheb B Kazi, Ankit K Desai, R Bradley Troxler, et al.
Journal of Obstetrics and Gynaecology of India
|
November 13, 2018
Single Nucleotide Polymorphism-Based Noninvasive Prenatal Testing: Experience in India
Ishwar Chander Verma, Ratna Puri, Eswarachary Venkataswamy, et al.
Molecular Genetics and Metabolism
|
October 2, 2020
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective
Mohamed A Elmonem, Amaya Belanger-Quintana, Andrea Bordugo, et al.
Page
of 24