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

Clinical Features of Families with a Novel Pathogenic Mutation in Sepiapterin Reductase

蝶呤还原酶中一种新型致病突变家族的临床特征

Mohamed, Feda E; Alzyoud, Lara; Ghattas, Mohammad A; Tabouni, Mohammed; Fienemann, André; Trinh, Joanne; Baydoun, Ibrahim; Kizhakkedath, Praseetha; Alblooshi, Hiba; Shaukat, Qudsia; Amouri, Rim; Farrer, Matthew J; Sassi, Samia Ben; Al-Jasmi, Fatma

Correction: A novel LACC1 variant c.658G > A (p.Asp220Asn) in familial juvenile arthritis: identification and functional analysis

更正:家族性幼年关节炎中一种新的LACC1变异c.658G>A (p.Asp220Asn):鉴定和功能分析

Alblooshi, Hiba; Mustafa, Noor; Khalam, Azeem Abdul; Bharathan, Anjali; Mohammed, Ekhlass; Baydoun, Ibrahim; Tabouni, Mohammed; Allam, Mushal; Almansoori, Meera; Fatima, Tabeer; Aljaberi, Najla

A novel LACC1 variant c.658G>A (p. Asp220Asn) in familial juvenile arthritis: identification and functional analysis.

家族性幼年关节炎中一种新的 LACC1 变异 c.658G>A (p. Asp220Asn):鉴定和功能分析

Alblooshi Hiba, Mustafa Noor, Khalam Azeem Abdul, Bharathan Anjali, Mohammed Ekhlass, Baydoun Ibrahim, Allam Mushal, Almansoori Meera, Fatima Tabeer, Aljaberi Najla

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records

对一组异质性孟德尔遗传病患者及其电子健康记录中心血管疾病基因的遗传变异进行分析

Akawi, Nadia; Al Mansoori, Ghadeera; Al Zaabi, Anwar; Badics, Andrea; Al Dhaheri, Noura; Al Shamsi, Aisha; Al Tenaiji, Amal; Alzohily, Bashar; Almesmari, Fatmah S A; Al Hammadi, Hamad; Al Dhahouri, Nahid; Irshaid, Manal; Kizhakkedath, Praseetha; Al Shibli, Fatema; Tabouni, Mohammed; Allam, Mushal; Baydoun, Ibrahim; Alblooshi, Hiba; Ali, Bassam R; Foo, Roger S; Al Jasmi, Fatma

Case report: Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum

病例报告:与SLC30A9基因相关的Birk-Landau-Perez综合征——更多病例的发现及表型谱的扩展

Kizhakkedath, Praseetha; AlDhaheri, Watfa; Baydoun, Ibrahim; Tabouni, Mohammed; John, Anne; Almansoori, Taleb M; Al-Turki, Saeed; Al-Jasmi, Fatma; Alblooshi, Hiba