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

Expanding the clinical spectrum of interleukin-2 receptor alpha chain deficiency: two novel cases with long-term hematopoietic stem cell transplantation outcome and literature review

拓展白细胞介素-2受体α链缺乏症的临床谱:两例造血干细胞移植长期疗效的新病例及文献综述

Alzubedy, Maha; Osman, Ahmed Sayed; Alajlan, Huda; Alazami, Anas M; Al-Mousa, Hamoud

Genetic and phenotypic landscape of monogenic lupus: insights from an international cohort

单基因狼疮的遗传和表型图谱:来自国际队列研究的启示

Al-Mayouf, Sulaiman M; Ziaee, Vahid; Movahedi, Nasim; Kostik, Mikhail; Alhuthil, Raghad; Alsonbul, Abdullah; Asiri, Abdulrahman; Volpi, Stefano; Gattorno, Marco; Majeed, Mahmoud; Al Abrawi, Safiya; Yateem, Mada; Alharthi, Ashwag; Al-Saoud, Sima; Alazami, Anas M; AlSaleem, Alhanouf

Clinical, immunological, molecular characteristics and outcomes of stem cell transplantation in ZAP70 deficiency: a single-center experience

ZAP70缺陷患者干细胞移植的临床、免疫学、分子特征及预后:单中心经验

AlQahtani, Fai; Al Shaqaq, Azhar; Al-Saud, Bandar; AlRumayyan, Nora; Mohammed, Reem; Arnaout, Rand; Elshorbagi, Sahar; Albuhairi, Sultan; Al-Ahmari, Ali; Ayas, Mouhab; Al-Saedi, Hawazen; Hawwari, Abbas; Alazami, Anas M; Al-Mousa, Hamoud

Hematopoietic Stem Cell Transplantation Corrects IL-2Rβ Deficiency

造血干细胞移植可纠正IL-2Rβ缺乏症

AlQahtani, Fai; AlGhamdi, Manar; AlZahrani, Mofareh; AlAzami, Anas M; Al-Buhairi, Sultan; Al-Mousa, Hamoud

Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity

由纯合DNA连接酶1突变体引起的重症联合免疫缺陷,该突变体催化活性降低但连接保真度增加

Alajlan, Huda; Raducanu, Vlad-Stefan; Lopez de Los Santos, Yossef; Tehseen, Muhammad; Alruwaili, Hibah; Al-Mazrou, Amer; Mohammad, Reem; Al-Alwan, Monther; De Biasio, Alfredo; Merzaban, Jasmeen S; Al-Mousa, Hamoud; Hamdan, Samir M; Alazami, Anas M

ZNFX1 Deficiency in a Child with Interstitial Pneumonitis and Peripheral Monocytosis

一名患有间质性肺炎和外周血单核细胞增多症的儿童被诊断为 ZNFX1 缺乏症

Al-Saud, Bandar; Alshareef, Turki; Al-Alwan, Monther; Alazami, Anas M

Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients

8例TFRC基因突变引起的联合免疫缺陷的临床和免疫学特征

Aljohani, Amal H; Al-Mousa, Hamoud; Arnaout, Rand; Al-Dhekri, Hasan; Mohammed, Reem; Alsum, Zobaida; Nicolas-Jilwan, Manal; Alrogi, Fayhan; Al-Muhsen, Saleh; Alazami, Anas M; Al-Saud, Bandar

Genomic and phenotypic delineation of congenital microcephaly

先天性小头畸形的基因组和表型特征

Shaheen, Ranad; Maddirevula, Sateesh; Ewida, Nour; Alsahli, Saud; Abdel-Salam, Ghada M H; Zaki, Maha S; Tala, Saeed Al; Alhashem, Amal; Softah, Ameen; Al-Owain, Mohammed; Alazami, Anas M; Abadel, Basma; Patel, Nisha; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Ibrahim, Niema; Hashem, Mais; Abdulwahab, Firdous; Hamad, Muddathir; Tabarki, Brahim; Alwadei, Ali H; Alhazzani, Fahad; Bashiri, Fahad A; Kentab, Amal; Şahintürk, Serdar; Sherr, Elliott; Fregeau, Brieana; Sogati, Samira; Alshahwan, Saad Ali M; Alkhalifi, Salwa; Alhumaidi, Zainab; Temtamy, Samia; Aglan, Mona; Otaify, Ghada; Girisha, Katta M; Tulbah, Maha; Seidahmed, Mohammed Zain; Salih, Mustafa A; Abouelhoda, Mohamed; Momin, Afaque A; Saffar, Muna Al; Partlow, Jennifer N; Arold, Stefan T; Faqeih, Eissa; Walsh, Christopher; Alkuraya, Fowzan S

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly

PUS7基因突变会损害人类的假尿苷化作用,并导致智力障碍和小头畸形。

Shaheen, Ranad; Tasak, Monika; Maddirevula, Sateesh; Abdel-Salam, Ghada M H; Sayed, Inas S M; Alazami, Anas M; Al-Sheddi, Tarfa; Alobeid, Eman; Phizicky, Eric M; Alkuraya, Fowzan S

Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.

截断型 ARL6IP1 变异是导致致命性复杂性遗传性痉挛性截瘫的遗传原因

Wakil Salma M, Alhissi Safa, Al Dossari Haya, Alqahtani Ayesha, Shibin Sherin, Melaiki Brahim T, Finsterer Josef, Al-Hashem Amal, Bohlega Saeed, Alazami Anas M