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

Dual variants of uncertain significance in a case of hyper-IgM syndrome: implications for diagnosis and management.

高IgM综合征病例中意义不明的两种变异:对诊断和治疗的影响

Agrebi Nourhen, Mackeh Rafah, Alsabbagh Mohamed, Elmi Asha, Al-Marri Amnah A, Hubrack Satanay Z, Purayil Saleema C, Karim Mohammed Yousuf, Hassan Amel, Lo Bernice

Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.

MINPP1 的双等位基因功能丧失变异导致脑桥小脑发育不全,并伴有特征性的严重神经发育障碍

Al-Maraghi Aljazi, Shaath Rulan, Ford Katherine, Aamer Waleed, AlRayahi Jehan, Hussein Sura, Aliyev Elbay, Agrebi Nourhen, Kohailan Muhammad, Hubrack Satanay Z, Palaniswamy Sasirekha, Kennedy Adam D, DeBalsi Karen L, Elsea Sarah H, Benini Ruba, Ben-Omran Tawfeg, Lo Bernice, Akil Ammira S A, Fakhro Khalid A

Burden of Mendelian disorders in a large Middle Eastern biobank

中东大型生物样本库中孟德尔遗传病的负担

Aamer, Waleed; Al-Maraghi, Aljazi; Syed, Najeeb; Gandhi, Geethanjali Devadoss; Aliyev, Elbay; Al-Kurbi, Alya A; Al-Saei, Omayma; Kohailan, Muhammad; Krishnamoorthy, Navaneethakrishnan; Palaniswamy, Sasirekha; Al-Malki, Khulod; Abbasi, Saleha; Agrebi, Nourhen; Abbaszadeh, Fatemeh; Akil, Ammira S Al-Shabeeb; Badii, Ramin; Ben-Omran, Tawfeg; Lo, Bernice; Mokrab, Younes; Fakhro, Khalid A

X-Linked Agammaglobulinemia Case with TH Domain Missense Mutation in Bruton Tyrosine Kinase

布鲁顿酪氨酸激酶TH结构域错义突变引起的X连锁无丙种球蛋白血症病例

Agrebi, Nourhen; Gentilcore, Giusy; Grivel, Jean-Charles; Alkhayer, Ghroob; Hassoun, Jihad; Hassan, Amel; Adeli, Mehdi; Lo, Bernice

Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency

阿巴西普作为LRBA缺乏症的长期靶向治疗

Kiykim, Ayca; Ogulur, Ismail; Dursun, Esra; Charbonnier, Louis Marie; Nain, Ercan; Cekic, Sukru; Dogruel, Dilek; Karaca, Neslihan Edeer; Cogurlu, Mujde Tuba; Bilir, Ozlem Arman; Cansever, Murat; Kapakli, Hasan; Baser, Dilek; Kasap, Nurhan; Kutlug, Seyhan; Altintas, Derya Ufuk; Al-Shaibi, Ahmad; Agrebi, Nourhen; Kara, Manolya; Guven, Ayla; Somer, Ayper; Aydogmus, Cigdem; Ayaz, Nuray Aktay; Metin, Ayse; Aydogan, Metin; Uncuoglu, Aysen; Patiroglu, Turkan; Yildiran, Alisan; Guner, Sukru Nail; Keles, Sevgi; Reisli, Ismail; Aksu, Guzide; Kutukculer, Necil; Kilic, Sara S; Yilmaz, Mustafa; Karakoc-Aydiner, Elif; Lo, Bernice; Ozen, Ahmet; Chatila, Talal A; Baris, Safa

Comprehensive review of autoantibodies in patients with hyper-IgM syndrome

对高IgM综合征患者自身抗体的全面回顾

Barbouche, Mohamed-Ridha; Chen, Qubo; Carbone, Marco; Ben-Mustapha, Imen; Shums, Zakera; Trifa, Mehdi; Malinverno, Federica; Bernuzzi, Francesca; Zhang, Haiyan; Agrebi, Nourhen; Norman, Gary L; Chang, Christopher; Gershwin, M Eric; Invernizzi, Pietro