EKB Journal Management System

Keywords = Whole exome sequencing

Number of Articles: 2

1		Use of Allele-Specific-Amplification Refractory Mutation System–Polymerase Chain Reaction for the Detection of Thyroid-Stimulating Hormone Receptor Gene Mutation in an Indian Family with Thyroid Dyshormonogenesis
	Volume 6, Issue 1, January 2024, Page 7-36
	Venkanna Bhanothu; Simeone Fernandes; Sudha Chandrashekhar Rao; Rachna Keshwani; Shagun W Shagun; Suchitra Surve; Shailesh Pande; Sudhakar DVS; Neha Minde; Shivamkumar Sriwas
	View Article \| PDF 1.16 MB \| View on SCiNiTO

2		Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients
	Volume 11, Issue 1, January 2022, Page 29-37
	Hisham Megahed; Engy A. Ashaat; Samira Ismail; Neveen A. Ashaat; Vincent Cantagrel; Mona O. El Ruby
	View Article \| PDF 1.23 MB \| View on SCiNiTO

Use of Allele-Specific-Amplification Refractory Mutation System–Polymerase Chain Reaction for the Detection of Thyroid-Stimulating Hormone Receptor Gene Mutation in an Indian Family with Thyroid Dyshormonogenesis