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

New drug-like small molecule antagonizes phosphatidylinositol (3,4,5)-trisphosphate (PIP3) in patients with conotruncal heart defects

一种新型类药小分子可拮抗圆锥动脉干畸形患者体内的磷脂酰肌醇(3,4,5)-三磷酸(PIP3)。

Fayez, Alaaeldin G; Esmaiel, Nora N; Ashaat, Engy A; Refeat, Miral M; Lotfy, Randa S; Raouf, Haiam Abdel; El Ruby, Mona O

Correction: Correlating SFTPC gene variants to interstitial lung disease in Egyptian children

更正:埃及儿童间质性肺病与SFTPC基因变异的相关性

Abdel Megeid, Azza K; Refeat, Miral M; Ashaat, Engy A; El-Kamah, Ghada; El-Saiedi, Sonia A; Elfalaki, Mona M; El Ruby, Mona O; Amr, Khalda S

miR-454-3p and miR-194-5p targeting cardiac sarcolemma ion exchange transcripts are potential noninvasive diagnostic biomarkers for childhood dilated cardiomyopathy in Egyptian patients

miR-454-3p 和 miR-194-5p 靶向心肌肌膜离子交换转录本,是埃及儿童扩张型心肌病潜在的非侵入性诊断生物标志物。

Fayez, Alaaeldin G; Esmaiel, Nora N; Salem, Sohair M; Ashaat, Engy A; El-Saiedi, Sonia A; El Ruby, Mona O

Interstitial Deletion of 2q22.2q22.3 Involving the Entire ZEB2 Gene in a Case of Mowat-Wilson Syndrome

一例 Mowat-Wilson 综合征患者存在 2q22.2q22.3 区段间质缺失,涉及整个 ZEB2 基因

Refaat, Khaled; Helmy, Nivine; Elawady, Mohamed; El Ruby, Mona; Kamel, Alaa; Mekkawy, Mona; Ashaat, Engy; Eid, Ola; Mohamed, Amal; Rady, Mervat

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations

首例两例因CANT1纯合突变导致Desbuquois发育不良的埃及患者报告

Thomas, Manal M; Ashaat, Engy A; Otaify, Ghada A; Ismail, Samira; Essawi, Mona L; Abdel-Hamid, Mohamed S; Hassan, Heba A; Alsaiedi, Sonia A; Aglan, Mona; El Ruby, Mona O; Temtamy, Samia

Turner syndrome in diverse populations

不同人群中的特纳综合征

Kruszka, Paul; Addissie, Yonit A; Tekendo-Ngongang, Cedrik; Jones, Kelly L; Savage, Sarah K; Gupta, Neerja; Sirisena, Nirmala D; Dissanayake, Vajira H W; Paththinige, C Sampath; Aravena, Teresa; Nampoothiri, Sheela; Yesodharan, Dhanya; Girisha, Katta M; Patil, Siddaramappa Jagdish; Jamuar, Saumya Shekhar; Goh, Jasmine Chew-Yin; Utari, Agustini; Sihombing, Nydia; Mishra, Rupesh; Chitrakar, Neer Shoba; Iriele, Brenda C; Lulseged, Ezana; Megarbane, Andre; Uwineza, Annette; Oyenusi, Elizabeth Eberechi; Olopade, Oluwarotimi Bolaji; Fasanmade, Olufemi Adetola; Duenas-Roque, Milagros M; Thong, Meow-Keong; Tung, Joanna Y L; Mok, Gary T K; Fleischer, Nicole; Rwegerera, Godfrey M; de Herreros, María Beatriz; Watts, Johnathan; Fieggen, Karen; Huckstadt, Victoria; Moresco, Angélica; Obregon, María Gabriela; Hussen, Dalia Farouk; Ashaat, Neveen A; Ashaat, Engy A; Chung, Brian H Y; Badoe, Eben; Faradz, Sultana M H; El Ruby, Mona O; Shotelersuk, Vorasuk; Wonkam, Ambroise; Ekure, Ekanem Nsikak; Phadke, Shubha R; Richieri-Costa, Antonio; Muenke, Maximilian

Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation

对一例由不平衡易位引起的1p36单体综合征进行表型和分子细胞遗传学分析。

Hussen, Dalia F; Kamel, Alaa K; Mekkawy, Mona K; Ashaat, Engy A; El Ruby, Mona O

N- and C-Modified TiO₂ Nanotube Arrays: Enhanced Photoelectrochemical Properties and Effect of Nanotubes Length on Photoconversion Efficiency

N和C修饰的TiO₂纳米管阵列:增强的光电化学性能及纳米管长度对光电转换效率的影响

Mohamed, Ahmed El Ruby; Barghi, Shahzad; Rohani, Sohrab

Williams-Beuren syndrome in diverse populations

不同人群中的威廉姆斯-博伊伦综合征

Kruszka, Paul; Porras, Antonio R; de Souza, Deise Helena; Moresco, Angélica; Huckstadt, Victoria; Gill, Ashleigh D; Boyle, Alec P; Hu, Tommy; Addissie, Yonit A; Mok, Gary T K; Tekendo-Ngongang, Cedrik; Fieggen, Karen; Prijoles, Eloise J; Tanpaiboon, Pranoot; Honey, Engela; Luk, Ho-Ming; Lo, Ivan F M; Thong, Meow-Keong; Muthukumarasamy, Premala; Jones, Kelly L; Belhassan, Khadija; Ouldim, Karim; El Bouchikhi, Ihssane; Bouguenouch, Laila; Shukla, Anju; Girisha, Katta M; Sirisena, Nirmala D; Dissanayake, Vajira H W; Paththinige, C Sampath; Mishra, Rupesh; Kisling, Monisha S; Ferreira, Carlos R; de Herreros, María Beatriz; Lee, Ni-Chung; Jamuar, Saumya S; Lai, Angeline; Tan, Ee Shien; Ying Lim, Jiin; Wen-Min, Cham Breana; Gupta, Neerja; Lotz-Esquivel, Stephanie; Badilla-Porras, Ramsés; Hussen, Dalia Farouk; El Ruby, Mona O; Ashaat, Engy A; Patil, Siddaramappa J; Dowsett, Leah; Eaton, Alison; Innes, A Micheil; Shotelersuk, Vorasuk; Badoe, Ëben; Wonkam, Ambroise; Obregon, María Gabriela; Chung, Brian H Y; Trubnykova, Milana; La Serna, Jorge; Gallardo Jugo, Bertha Elena; Chávez Pastor, Miguel; Abarca Barriga, Hugo Hernán; Megarbane, Andre; Kozel, Beth A; van Haelst, Mieke M; Stevenson, Roger E; Summar, Marshall; Adeyemo, A Adebowale; Morris, Colleen A; Moretti-Ferreira, Danilo; Linguraru, Marius George; Muenke, Maximilian

A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis

埃及首例硬化性骨化病家族中出现新的硬化蛋白功能丧失突变

Alaaeldin Fayez, Mona Aglan, Nora Esmaiel, Taher El Zanaty, Mohamed Abdel Kader, Mona El Ruby