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

Impact of glycerol phenylbutyrate on biochemistry and outcomes in paediatric patients with urea cycle disorders: a multicentre case series from Saudi Arabia

甘油苯丁酸酯对尿素循环障碍患儿生化指标和预后的影响:沙特阿拉伯多中心病例系列研究

Hejazi, Rawan; Alghamdi, Thamer H; Salih, Rihab; Naeim, Yousra; Althiyab, Hamad; AlAnzi, Talal; Mohamed, Sarar; Alfadhel, Majid; ALTassan, Ruqaiah Saleh; Al-Hassnan, Zuhair N; AlSayed, Moeenaldeen

Adult genomic medicine: lessons from a multisite study of 2700 patients

成人基因组医学:一项纳入2700名患者的多中心研究的经验教训

Bakur, Khadijah; Hamid, Halima; Alhaddad, Bader; Alfadhel, Majid; Alhashem, Amal; Eyaid, Wafaa; Alanzi, Talal; Al Mutairi, Fuad; Alswaid, Abdulrahman; Ababneh, Farouq; Al Ghamdi, Malak; Mohamed, Sarar; Alaskar, Ahmed; Alqahtani, Farjah; Alzaidan, Hamad; Al-Owain, Mohammed; Faqeih, Eissa A; Mushiba, Aziza M; Alanazi, Rola; Almoallem, Basamat; Alsaleh, Norah Saleh; Al Tala, Saeed; Alshammari, Muneera; Turkistani, Alyazeed; Gosadi, Ghadah; Hakami, Fahad; Alobaid, Fahad; Al Rukban, Hadeel; Alfaidi, Ahmed; Ba-Abbad, Rola; Almuqbil, Mohammed A; Al-Boukai, Ahmad; Alamri, Abdulrahman Saad; Alshehri, Ali; Sulaiman, Raashda A; Almontasheri, Ali; Danish, Enam; AlSagheir, Afaf; Aljeaid, Deema; Al-Awam, Bashayer S; Shawli, Aiman; Al-Otaibi, Maha; Majdali, Wed Sameer; Azher, Zohor Asaad; Almannai, Mohammed; Baalawi, Wail; AlAbdi, Lama; Benoukraf, Touati; Alkuraya, Fowzan S

Investigating the molecular mechanisms of deltamethrin resistance in Musca domestica populations from Saudi Arabia

研究沙特阿拉伯家蝇种群中溴氰菊酯抗性的分子机制

Alzabib, Ali A; Al-Sarar, Ali S; Abobakr, Yasser; Saleh, Amgad A

Revisiting motif finding: do bi-objective metaheuristics surpass single-objective metaheuristics?

重新审视基序发现:双目标元启发式算法是否优于单目标元启发式算法?

Nayeem, Muhammad Ali; Ahmed, Shehab Sarar; Aladhadh, Suliman; Rahman, M Sohel

Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience

沙特阿拉伯经典型同型半胱氨酸尿症的临床、生化和分子特征以及新生儿筛查对预防并发症的影响:一家三级医疗中心的经验

Mohamed, Ahmed Sarar; AlAnzi, Talal; Alhashem, Amal; Alrukban, Hadeel; Al Harbi, Fahad; Mohamed, Sarar

Severe Neurological Sequelae and Radiological Findings in a Lost-to-Follow-Up Case of Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

高鸟氨酸血症-高氨血症-同型瓜氨酸尿症综合征失访病例的严重神经系统后遗症和放射学表现

Mohamed, Ahmed Sarar; Gupta, Ahaan; Zakzouk, Reem S

A homozygous variant in FGFR3 causing lethal skeletal dysplasia

FGFR3基因纯合变异导致致命性骨骼发育不良

Rahbeeni, Zuhair; Al-Shahrani, Hamdan; Noon, Mohamed; Mohamed, Sarar

Prenatal Diagnosis of c.437-1G>A Mutation in the MAN2B1 Gene in a Family With Alpha-Mannosidosis: Unraveling Clinical Presentation and Treatment Outcomes in a Novel Prenatal Case

一例α-甘露糖苷酶缺乏症家族中MAN2B1基因c.437-1G>A突变的产前诊断:揭示该家族的临床表现和治疗结果

AlAnzi, Talal; Mohamed, Sarar; AlHashem, Amal; AlRukban, Hadeel

Cystic Lung Changes, Bronchiectasis, and a Heterozygous-Primary Ciliary Dyskinesia-Associated Variant in the DNAH5 Gene: A Diagnostic Challenge

囊性肺改变、支气管扩张以及DNAH5基因中与原发性纤毛运动障碍相关的杂合变异:诊断挑战

Albalawi, Manal; Al-Shamrani, Abdullah; Mohamed, Ahmed Sarar; Mohamed, Sarar

Single and Combined Mutations of Acetylcholinesterase Gene Giving Resistance to Pirimiphos-Methyl in Musca domestica Slaughterhouse Populations

家蝇屠宰场种群中乙酰胆碱酯酶基因的单突变和组合突变赋予其对甲基嘧啶磷的抗性

Alzabib, Ali A; Al-Sarar, Ali S; Abobakr, Yasser; Saleh, Amgad A