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

Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes

新型双等位基因COL25A1变异体拓宽了临床表现谱,从先天性颅神经支配障碍到胎儿致死表型。

Harms, Frederike L; Müller, Christian; Kortüm, Fanny; Hempel, Maja; Alawi, Malik; Zaki, Maha S; Elhossini, Rasha M; Abdel-Hamid, Mohamed S; AlAbdi, Lama; Alkuraya, Fowzan S; Kurdi, Wesam; Celse, Tristan; Spodenkiewicz, Marta; Laurens, Tiphany; Dieterich, Klaus; Jagadeesh, Sujatha; Salvankar, Sandesh; Girisha, Katta M; Kutsche, Kerstin

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment

NDUFA13双等位基因变异会导致神经发育表型,并伴有逐渐加重的神经功能障碍。

Kaiyrzhanov, Rauan; Thompson, Kyle; Efthymiou, Stephanie; Mukushev, Askhat; Zharylkassyn, Akbota; Prasad, Chitra; Ghayoor Karimiani, Ehsan; Alvi, Javeria Raza; Niyazov, Dmitriy; Alahmad, Ahmad; Babaei, Meisam; Tajsharghi, Homa; Albash, Buthaina; Alaqeel, Ahmad; Charif, Majida; Hashemi, Narges; Heidari, Morteza; Kalantar, Seyed Mehdi; Lenaers, Guy; Vahidi Mehrjardi, Mohammad Yahya; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju K; Mirabutalebi, Seyed Hamidreza; Carere, Deanna Alexis; Movahedinia, Mojtaba; Murphy, David; McFarland, Robert; Abdel-Hamid, Mohamed S; Elhossini, Rasha M; Alavi, Shahryar; Napier, Melanie; Belanger-Quintana, Amaya; Prasad, Asuri N; Jakobczyk, Jessica; Roubertie, Agathe; Rupar, Tony; Sultan, Tipu; Toosi, Mehran Beiraghi; Sazanov, Leonid; Severino, Mariasavina; Houlden, Henry; Taylor, Robert W; Maroofian, Reza

Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients

对一组埃及患者进行软骨发育不良的临床和分子特征分析

Refeat, Miral M; Elhossini, Rasha M; Hassan, Heba Amin; Aglan, Mona S; Abdelaleem, Alice; Essawi, Mona L

Deciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia

解读与MIA3相关牙软骨发育不良相关的表型谱

Abdel-Hamid, Mohamed S; Elhossini, Rasha M; Abdel-Ghafar, Sherif F; Mehrez, Mennat; Aglan, Mona S; Hassib, Nehal F

Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits

脱发和智力障碍综合征中发现的新型LSS变异:LSS相关罕见病特征的新病例报告及临床表现谱

Elbendary, Hasnaa M; Marafi, Dana; Saad, Ahmed K; Elhossini, Rasha; Duan, Ruizhi; Rafat, Karima; Jhangiani, Shalini N; Gibbs, Richard A; Pehlivan, Davut; Calame, Daniel G; Posey, Jennifer E; Lupski, James R; Zaki, Maha S

Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations

五例新发脊椎软骨发育不良患者:鉴定出三种具有不同神经系统表现的新型ACP5变异体

Elhossini, Rasha M; Elbendary, Hasnaa M; Rafat, Karima; Ghorab, Raghda M; Abdel-Hamid, Mohamed S

Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia

SCNM1 基因突变会导致口面指综合征,这是由于影响初级纤毛的微小内含子剪接缺陷所致

Asier Iturrate, Ana Rivera-Barahona, Carmen-Lisset Flores, Ghada A Otaify, Rasha Elhossini, Marina L Perez-Sanz, Julián Nevado, Jair Tenorio-Castano, Juan Carlos Triviño, Francesc R Garcia-Gonzalo, Francesca Piceci-Sparascio, Alessandro De Luca, Leopoldo Martínez, Tugba Kalaycı, Pablo Lapunzina, Umu