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

Multiplex Consanguineous Family Highlights CLASP1 as a Candidate Gene for Lissencephaly

多重近亲结婚家族研究揭示CLASP1可能是无脑回畸形的候选基因

Alsafh, Rawan; Alhashem, Amal; Elsyed, Aly; Yüksel, Zafer; Graiess-Tlili, Kalthoum; Hundallah, Khalid; Thabet, Farah; Tabarki, Brahim

Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement

JPH1基因功能缺失变异会导致先天性肌病,并伴有明显的面部和眼部症状。

Johari, Mridul; Topf, Ana; Folland, Chiara; Duff, Jennifer; Dofash, Lein; Marti, Pilar; Robertson, Thomas; Vilchez, Juan; Cairns, Anita; Harris, Elizabeth; Marini-Bettolo, Chiara; Hundallah, Khalid; Alhashem, Amal M; Al-Owain, Mohammed; Maroofian, Reza; Ravenscroft, Gianina; Straub, Volker

Diagnosis and management of neurofibromatosis type 1 in Arabian Gulf Cooperation Council Region: challenges and recommendations

阿拉伯海湾合作委员会地区1型神经纤维瘤病的诊断和治疗:挑战与建议

Bashiri, Fahad A; Hundallah, Khaled; Abukhaled, Musaad; Alyahya, Mossaed Mohammed; Al Futaisi, Amna; Alshowaeir, Daniah; Al Tawari, Asmaa; Abdullah, Shaker; Maaz, Ata Ur Rehman; AlShamsi, Eman Taryam; Alshuaibi, Walaa; Alotaibi, Faisal; Aldhalaan, Hesham

Corrigendum: Diagnosis and management of neurofibromatosis type 1 in Arabian Gulf Cooperation Council Region: challenges and recommendations

更正:阿拉伯海湾合作委员会地区1型神经纤维瘤病的诊断和治疗:挑战与建议

Bashiri, Fahad A; Hundallah, Khaled; Abukhaled, Musaad; Alyahya, Mossaed Mohammed; Al Futaisi, Amna; Alshowaeir, Daniah; Al Tawari, Asmaa; Abdullah, Shaker; Maaz, Ata Ur Rehman; AlShamsi, Eman Taryam; Alshuaibi, Walaa; Alotaibi, Faisal; Aldhalaan, Hesham

Novel TLR7 hemizygous variant in post-COVID-19 neurological deterioration: a case report with literature review

新冠肺炎后神经功能恶化中一种新型TLR7半合子变异:病例报告及文献综述

Noor Eddin, Ahmed; Al-Rimawi, Mohammed; Peer-Zada, Feham; Hundallah, Khalid; Alhashem, Amal

Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review

中东国家芳香族L-氨基酸脱羧酶缺乏症:病例系列及文献综述

Abukhaled, Musaad; Al Muqbil, Mohammed; Alghamdi, Malak Ali; Hundallah, Khalid; Suleiman, Jehan; Ben-Omran, Tawfeg; Alfadhel, Majid; Almannai, Mohammed; Alsaleh, Rehab; Tabarki, Brahim

Correction to: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review

更正:中东国家芳香族L-氨基酸脱羧酶缺乏症:病例系列及文献综述

Abukhaled, Musaad; Al Muqbil, Mohammed; Alghamdi, Malak Ali; Hundallah, Khalid; Suleiman, Jehan; Ben-Omran, Tawfeg; Alfadhel, Majid; Almannai, Mohammed; Alsaleh, Rehab; Tabarki, Brahim

Effectiveness of intra-thecal methotrexate in refractory Anti-N-methyl-d-aspartate receptor encephalitis

鞘内注射甲氨蝶呤治疗难治性抗N-甲基-D-天冬氨酸受体脑炎的疗效

Hommady, Raid; Alsohibani, Abdullah; Alayed, Ruba; Alshehri, Abdulaziz; AbuMelha, Ahlam; Aljomah, Lama; Hundallah, Khalid; Almuqbil, Mohammed; Altuwaijri, Waleed; Alrumayyan, Ahmad; Alrifai, Muhammad Talal; Baarmah, Duaa Mohammed

Multiple cranial nerve enhancement in a case of neuronal ceroid lipofuscinosis type 8

8型神经元蜡样脂褐质沉积症病例中多发性颅神经强化

Alsini, Hanin; Zakzouk, Reem; Hundallah, Khaled; Tabarki, Brahim

Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course

WIPI2 纯合错义变异会导致先天性自噬障碍,并伴有不同临床严重程度和疾病过程的神经发育障碍

Reza Maroofian, Andrea Gubas, Rauan Kaiyrzhanov, Marcello Scala, Khalid Hundallah, Mariasavina Severino, Mohamed S Abdel-Hamid, Jill A Rosenfeld, Darius Ebrahimi-Fakhari, Zahir Ali, Fazal Rahim, Henry Houlden, Sharon A Tooze, Norah S Alsaleh, Maha S Zaki