EKB Journal Management System
1.

Mutation Analysis of the Iduronate-2-Sulfatase Gene among Egyptian Patients with Hunter Syndrome

Pages 1-9
Nouran Mohamed Sedky; Mona Salem Khalil; Nahed Mohamed Ibrahim; Ekram Mahamed Fateen; Mona Mohamed Ibrahim; Mona Sabry Aglan; Heba Amin Hassan; Mona Lotfi Essawi
2.

Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) Gene Polymorphism in Females with Recurrent Spontaneous Pregnancy Loss

Pages 1-9
Osama Elshaer; Eman Behiry; Hesham Issa; dalia farouk; Engy Ashaat; weaam alkholy; Mohammed El-kholey; Mohammed el gazzar; Abeer Ramadan
3.

Muccopolysaccharidosis Type II, Two Novel Mutations

Pages 1-7
Nouran Mohamed Sedky; Ekram Fateen; Mona Salem Khalil; Nahed Mohamed Ibrahim; Mona Mohamed Ibrahim; Mona Aglan; Heba Amin Hassan; Mona Essawi
4.

Recent Advances in Cytogenomics for Genetic Diagnosis in the Center of Excellence for Human Genetics in Egypt

Pages 1-8
Amal Mohamed; Maha M. Eid; Mona K Mekkawy; Ola M. Eid; Azza E Abd-Elnaby; Maha S Zaki; Engy Ashaat; Ghada M Abdel-Salam; Mona Aglan; Mahmoud Issa; Wael Mahmoud; Assad Elgerzawy; Shymaa Hassan; Sally Abdalla; Engy S Sayed; Peter S Erian; Rana Mahrous; Abdelrahman Madian; Khaled Refaat; rania M Abdel Kader; Marwa Farid; Azzah Khedr; Marwa Shihab; Hesham Kayed; Islam Fadel; Nivine Helmy; Alaa K Kamel
5.

MLPA Based Detection of Copy Number Variations in Pediatric Patients with Global Developmental Delay/ Intellectual Disability

Pages 1-7
Rana Mahrous; Mohamed Gabal; Ola M. Eid; Engy Ashaat; Mona Aglan; Ahmed Shoman; Amal Mohamed
6.

Interstitial 8p Deletion in Two Patients with the Expansion of Phenotype and Possibility of Contribution of PINX1 Gene and GATA4 rs3729856 Variant in Absent Nails

Amal Mohamed; Wael M. Mahmoud; Alaaeldin Fayez; Asaad Elgerzawi; Engy Ashaat; Maha S Zaki; Nivine Helmy; Ola M. Eid; Alaa K Kamel
7.

Atypical case of amelogenesis imperfecta and generalized impacted dentitions: dental management and follow ups