遗传疾病和遗传报告杂志

抽象的 11, 体积 6 (2022)

案例报告

Clinical and Genetic Study of 1p36 Deletion Syndrome in Three Tunisian Patients

  • Yasmina Elaribi*, Houweyda Jilani, Syrine Hizem, Imen Rejeb, Lilia Kraoua, Caroline Rooryck-Thambo, Ahmed Maherzi, Ridha Mrad and Lamia Ben Jemaa

案例报告

Novel Variant Documentation of Dystrophic Epidermolysis Bullosa by Whole Exome Sequencing

  • Priyanka Vishwakarma1, Mayank Nilay, Ashish Dubey, Shashank Upadhyay, Amit Joshi, Deepika Kalo and Vishal Kumar Mishra