S. Bijarnia

发表

Glutaric aciduria type I: outcome following detection by newborn screening

J. Christodoulou, C. Ellaway, B. Wilcken, 2008, Journal of Inherited Metabolic Disease.

Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders

R. Saxena, S. Kohli, J. Verma, 2015, Prenatal diagnosis.

Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome

S. Aggarwal, R. Dua-Puri, I. Verma, 2018, Molecular Syndromology.

Current Status of Noninvasive Prenatal Testing and Counselling Considerations: An Indian Perspective

I. Verma, R. Puri, Veronica Arora, 2019, Journal of Fetal Medicine.

Evaluating the Utility of Next Generation Sequencing Technology in the Diagnosis and Prevention of Genetic Disorders in India, the Early Experiences

R. Saxena, S. Kohli, I. Verma, 2019, Journal of Fetal Medicine.

The Burden of Genetic Disorders in India and a Framework for Community Control

I. Verma, S. Bijarnia, 2002, Public Health Genomics.

Genetic counseling and prenatal diagnosis in India — experience at Sir Ganga Ram Hospital

R. Saxena, R. Sharma, I. Verma, 2003, Indian journal of pediatrics.

Progress in Diagnosis and Management of Intellectual Disability in India: A Journey Over Half-a-Century ! Reminiscences from Indian Pediatrics: A Tale of 50 Years

S. Sandal, Aashima Dabas, P. Suman, 2019 .

Newborn screening for congenital hypothyroidism in very-low-birth-weight babies: the need for a second test

B. Wilcken, V. Wiley, S. Bijarnia, 2011, Journal of Inherited Metabolic Disease.

Inborn Errors of Metabolism in the Neonatal Period – Is it Time to Change our Practice?

I. Verma, S. Bijarnia, 2012, The Indian Journal of Pediatrics.

Molecular characterization of supernumerary marker chromosomes found as unexpected chromosome abnormalities in nine prenatal and nine postnatal samples

S. Agarwal, P. Paliwal, I. Verma, 2019, Obstetrics & Gynecology International Journal.

Triple A syndrome — diagnostic and management issues

S. Bijarnia, I. C. Venna, 2003, Indian journal of pediatrics.

Tyrosinemia type I—Diagnostic issues and prenatal diagnosis

L. Jenkinson, J. Ruel, I. Verma, 2006, Indian journal of pediatrics.

Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene

S. Ellard, J. Houghton, R. Saxena, 2014, The Indian Journal of Pediatrics.

Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations.

R. Saxena, S. Kohli, I. Verma, 2012, Genetic testing and molecular biomarkers.

Using Noninvasive Prenatal Testing for Aneuploidies in a Developing Country: Lessons Learnt

I. Verma, R. Puri, U. Kotecha, 2014, Journal of Fetal Medicine.

Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia

L. Tallon, Shuishu Wang, Xinyue Liu, 2013, Journal of Human Genetics.

Absent/Hypoplastic Fetal Nasal Bone and Its Association with Aneuploidies

I. Verma, R. Puri, U. Kotecha, 2015, Journal of Fetal Medicine.

Leber's hereditary optic neuropathy with molecular characterization in two Indian families.

R. Saxena, S. Kohli, E. Thomas, 2005, Indian Journal of Ophthalmology.

Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome

D. Sillence, Robert L L Smith, Peter Shaw, 2009, Journal of paediatrics and child health.

Molecular Characterisation and Prenatal Diagnosis of Asparto-acylase Deficiency (Canavan Disease)—Report of Two Novel and Two Known Mutations from the Indian Subcontinent

S. Mahmood, R. Saxena, S. Kohli, 2012, The Indian Journal of Pediatrics.

Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations.

R. Saxena, S. Kohli, I. Verma, 2012, Genetic Testing and Molecular Biomarkers.