Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790

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Samia Sobki Author

SamiaSobki@gmail.com

Subjects of specialization
Telomerase

Affiliation
Central Military Laboratory and Blood Bank, Pathology and Laboratory Medicine Department, Prince Sultan Military Medical City, Riyadh, KSA

Biography

Samia Sobki belongs to ,Central Military Laboratory and Blood Bank intrested in the field Telomere; Telomerase; ALT; BFB cycles; Lamin A/C; HMTases; Epigenesis; Chromatin remodelers from  Prince Sultan Military Medical City, Riyadh, KSA

Publications

Research Article Subscription

Severe Expressive-Language Delay and Congenital Malformations in a Boy with Microduplication 7q11.23 Diagnosed by Molecular Cytogenetic Analysis

Author(s):

Inesse Ben-Abdallah-Bouhjar, Amal Al Hashem, Samia Sobki, Brahim Tabarki, Yasser Hassen Babair and Hatem Elghezal

We report a patient with speech delay and hydronephrosis ascertained with array-CGH screening of patients with abnormal neuronal migration and intellectual disability, having a 7q11.23 duplication reciprocal to the Williams-Beuren critical region (WBCR) deletion. Similarly to the reported patients, he showed serious difficulties in expressive language in the absence of severe intellectual disability and marked dysmorphic fea... view more»

DOI: 10.4172/2327-5790.1000127

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