Jadah相关文献与解析，生知库 | 链接生命科学的每一步

Doren, Vanessa Van; Smith, S; Grimsley-Ackerley, Cassie; Keith, Jadah; Arthur, Robert; Claussen, Henry; Murray, Phillip; Tangpricha, Vin; Hu, Yijuan; Su, Chang; He, Mengyu; Kelley, Colleen

微生物学

发表日期：2026

文献求助收藏

McArdle Disease: Insights Into a Rare Metabolic Myopathy in a Young Boy With Recurrent Exercise-Induced Muscle Weakness

麦卡德尔病：一名患有反复运动诱发性肌无力的男孩所患罕见代谢性肌病的深入研究

期刊:Cureus Journal of Medical Science

影响因子:1.3

doi:10.7759/cureus.78490

Ali, Reem Abdulla A; Jadah, Raafat Hamad Seroor H

代谢

发表日期：2025

文献求助收藏

A Case Report of a Child With Rare Phosphatidylinositol Glycan Anchor Biosynthesis Class N (PIGN) Gene Mutation With Hypotonia, Epilepsy, and Global Developmental Delay

一例罕见磷脂酰肌醇聚糖锚定生物合成N类（PIGN）基因突变患儿伴肌张力低下、癫痫和全面发育迟缓的病例报告

期刊:Cureus Journal of Medical Science

影响因子:1.3

doi:10.7759/cureus.80072

Khalifa, Haydy M; Alkayyat, Haya; Jadah, Raafat Hamad Seroor H

Delayed Diagnosis of Aicardi-Goutières Syndrome in a 10-Year-Old Female Child With TREX1 Mutation: A Case Report

一例携带TREX1基因突变的10岁女童Aicardi-Goutières综合征延迟诊断病例报告

期刊:Cureus Journal of Medical Science

影响因子:1.3

doi:10.7759/cureus.79730

Al Zayer, Leen; Al Zayer, Mustafa; Alrujaib, Abdulrahman; Buhasan, Asal; Jadah, Raafat Hamad Seroor H

发表日期：2025

文献求助收藏

When Genes Misfire: ARV1 and the Unseen Battle Against Pediatric Epileptic Encephalopathy

基因失控：ARV1 与儿童癫痫性脑病的隐形战斗

期刊:Cureus Journal of Medical Science

影响因子:1.3

doi:10.7759/cureus.82297

Hammad Seroor Jadah, Raafat; Al Aghawani, Jood A

Identification of ARV1 Gene Mutations in Three Pediatric Cases of Developmental and Epileptic Encephalopathy

在三例儿童发育性和癫痫性脑病中鉴定出ARV1基因突变

期刊:Cureus Journal of Medical Science

影响因子:1.3

doi:10.7759/cureus.82903

Buhusayen, Feras A Majeed; Alashraaf, Mohamed; Jadah, Raafat Hamad Seroor H

Expanded Phenotypic Spectrum of Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma (CEDNIK) Syndrome: A Rare Case Featuring Supraventricular Tachycardia and Tethered Spinal Cord

脑发育不全、神经病变、鱼鳞病和角化过度症（CEDNIK）综合征表型谱扩展：一例以室上性心动过速和脊髓栓系为特征的罕见病例

期刊:Cureus Journal of Medical Science

影响因子:1.3

doi:10.7759/cureus.86633

Fuad, Noor; Jadah, Raafat Hamad Seroor H

A Rare Compressive Spinal Thoracic Tumor in a Young Girl Who Presented With Rapid Progressive Lower Limb Weakness

一名年轻女孩患有罕见的胸椎压迫性肿瘤，表现为进行性下肢无力。

期刊:Cureus Journal of Medical Science

影响因子:1.3

doi:10.7759/cureus.86117

Aljar, Sara; Jadah, Raafat Hamad Seroor H

Pituitary stalk interruption syndrome with coexistent focal cortical dysplasia in a young boy

一名年轻男孩患有垂体柄中断综合征合并局灶性皮质发育不良

期刊:BMJ Case Reports

影响因子:0.5

doi:10.1136/bcr-2024-262020

Alaqili, Ameena Khaled; Jadah, Raafat Hammad Seroor; Alkhayyat, Haya Mohammed

A Rare Case of a Compressive Intracranial Epidermoid Cyst in a 13-Year-Old Patient

一例罕见的13岁患者颅内压迫性表皮样囊肿病例报告

期刊:Cureus Journal of Medical Science

影响因子:1.3

doi:10.7759/cureus.73197

Aldoseri, Waad Y; Hammad Seroor Jadah, Raafat

发表日期：2024

文献求助收藏

The Biosocial Microbiome: Gender Identity, Geography, and Mucosal Microbial Phenotypes

生物社会微生物组：性别认同、地理位置和黏膜微生物表型

McArdle Disease: Insights Into a Rare Metabolic Myopathy in a Young Boy With Recurrent Exercise-Induced Muscle Weakness

麦卡德尔病：一名患有反复运动诱发性肌无力的男孩所患罕见代谢性肌病的深入研究

A Case Report of a Child With Rare Phosphatidylinositol Glycan Anchor Biosynthesis Class N (PIGN) Gene Mutation With Hypotonia, Epilepsy, and Global Developmental Delay

一例罕见磷脂酰肌醇聚糖锚定生物合成N类（PIGN）基因突变患儿伴肌张力低下、癫痫和全面发育迟缓的病例报告

Delayed Diagnosis of Aicardi-Goutières Syndrome in a 10-Year-Old Female Child With TREX1 Mutation: A Case Report

一例携带TREX1基因突变的10岁女童Aicardi-Goutières综合征延迟诊断病例报告

When Genes Misfire: ARV1 and the Unseen Battle Against Pediatric Epileptic Encephalopathy

基因失控：ARV1 与儿童癫痫性脑病的隐形战斗

Identification of ARV1 Gene Mutations in Three Pediatric Cases of Developmental and Epileptic Encephalopathy

在三例儿童发育性和癫痫性脑病中鉴定出ARV1基因突变

Expanded Phenotypic Spectrum of Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma (CEDNIK) Syndrome: A Rare Case Featuring Supraventricular Tachycardia and Tethered Spinal Cord

脑发育不全、神经病变、鱼鳞病和角化过度症（CEDNIK）综合征表型谱扩展：一例以室上性心动过速和脊髓栓系为特征的罕见病例

A Rare Compressive Spinal Thoracic Tumor in a Young Girl Who Presented With Rapid Progressive Lower Limb Weakness

一名年轻女孩患有罕见的胸椎压迫性肿瘤，表现为进行性下肢无力。

Pituitary stalk interruption syndrome with coexistent focal cortical dysplasia in a young boy

一名年轻男孩患有垂体柄中断综合征合并局灶性皮质发育不良

A Rare Case of a Compressive Intracranial Epidermoid Cyst in a 13-Year-Old Patient

一例罕见的13岁患者颅内压迫性表皮样囊肿病例报告