日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Deciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia

解读与MIA3相关牙软骨发育不良相关的表型谱

Abdel-Hamid, Mohamed S; Elhossini, Rasha M; Abdel-Ghafar, Sherif F; Mehrez, Mennat; Aglan, Mona S; Hassib, Nehal F

Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients

短身畸形、牙齿异常和矮小症(DASS):埃及和巴基斯坦患者的表型和基因型分析

Nawaz, Hamed; Parveen, Asia; Khan, Sher Alam; Zalan, Abul Khair; Khan, Muhammad Adnan; Muhammad, Noor; Hassib, Nehal F; Mostafa, Mostafa I; Elhossini, Rasha M; Roshdy, Nehal Nabil; Ullah, Asmat; Arif, Amina; Khan, Saadullah; Ammerpohl, Ole; Wasif, Naveed

Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling

孤立性牙本质发育不全:新型DSPP变异及遗传咨询的启示

Hassib, Nehal F; Mehrez, Mennat; Mostafa, Mostafa I; Abdel-Hamid, Mohamed S

Correction to: Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene

更正:扩展由LSS基因新变异引起的APMR4综合征的表型谱

Elaraby, Nesma M; Ahmed, Hoda A; Ashaat, Neveen A; Tawfik, Sameh; Ahmed, Mahmoud K H; Hassib, Nehal F; Ashaat, Engy A

Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity

埃及外胚层发育不良患者中TSPEAR变异表型实体的确认及其与种族的关系

Rabie, Eman A; Sayed, Inas S M; Amr, Khalda; Ahmed, Hoda A; Mostafa, Mostafa I; Hassib, Nehal F; El-Sayed, Heba; Zada, Suher K; El-Kamah, Ghada

Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.

扩展由 LSS 基因新变异引起的 APMR4 综合征的表型谱及文献综述

Elaraby Nesma M, Ahmed Hoda A, Ashaat Neveen A, Tawfik Sameh, Ahmed Mahmoud K H, Hassib Nehal F, Ashaat Engy A

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations

三种外胚层发育不良通路关键基因(EDA、EDAR 和 EDARADD)的基因突变导致超过 60% 的埃及外胚层发育不良病例:七种新突变的报告

Ahmed, Hoda A; El-Kamah, Ghada Y; Rabie, Eman; Mostafa, Mostafa I; Abouzaid, Maha R; Hassib, Nehal F; Mehrez, Mennat I; Abdel-Kader, Mohamed A; Mohsen, Yasmine H; Zada, Suher K; Amr, Khalda S; Sayed, Inas S M

Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations

WNT10A、EDAR 和 EDA 中的有害变异导致孤立性和综合征性牙齿缺失:来自分子动力学模拟的结构视角

Parveen, Asia; Khan, Sher Alam; Mirza, Muhammad Usman; Bashir, Hina; Arshad, Fatima; Iqbal, Maria; Ahmad, Waseem; Wahab, Ahsan; Fiaz, Amal; Naz, Sidra; Ashraf, Fareeha; Mobeen, Tayyaba; Aziz, Salman; Ahmed, Syed Shoaib; Muhammad, Noor; Hassib, Nehal F; Mostafa, Mostafa I; Gaboon, Nagwa E; Gul, Roquyya; Khan, Saadullah; Froeyen, Matheus; Shoaib, Muhammad; Wasif, Naveed