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

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足的脑白质营养不良伴癫痫性脑病。

De Pace Raffaella, Dominguez Gonzalez Carlos A, Williamson Chad D, Helman Guy, Sanderson Leslie E, Disanza Brianna, Hsiao-Sánchez Nicole, Pizzino Amy, Muirhead Kayla, Bonkowsky Joshua L, Taft Ryan J, Sannaa Nouriya A, Dias Patricia, Quintas Ana Sofia, Mutlu Mehmet Burak, Bas Hasan, Oztürk Hasan, Mojarrad Majid, Alerasool Masoome, Sheikhani Shahriar, Jabbar Hayder Kadhim, Issa Awatif Hameed, Houlden Henry, Zonic Emir, Barakat Tahsin Stefan, Tripolski Kornelia, Romito Antonio, Teferedegn Eden, Vossough Arastoo, Whitehead Matthew T, Bhoj Elizabeth, Ahrens-Nicklas Rebecca C, Simons Cas, Wolvetang Ernst, van Ham Tjakko J, Bertoli-Avella Aida M, Maroofian Reza, Bonifacino Juan S, Vanderver Adeline

Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window

EPS8L2 (DFNB106) 相关性听力损失的分子和临床方面的研究拓展,凸显了潜在的治疗窗口

Owrang, Daniel; Rad, Aboulfazl; Alerasool, Masoome; Kolb, Susanne M; Lin, Sheng-Jia; Doll, Julia; Alidadiani, Neda; Ghaderi, Shahrooz; Hofrichter, Michaela A H; Maroofian, Reza; Varshney, Gaurav K; Mojarrad, Majid; Bartsch, Oliver; Haaf, Thomas; Vona, Barbara

Comprehensive Clinical, Diagnostic, and In Silico Assessment of a Novel 1p36.33p36.32 Copy Number Variant

对一种新型 1p36.33p36.32 拷贝数变异进行全面的临床、诊断和计算机模拟评估

Eslahi, Atieh; Kahaei, Mir Salar; Shirvan, Bita Barazandeh; Alerasool, Masoome; Tabarestani, Sepideh; Rezaie, Razie; Hashemi, Narges; Akhondian, Javad; Arabi, Mobina; Ebrahimzadeh, Farnoosh; Toosi, Mehran Beiraghi; Mojarrad, Majid

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration

ADAT3 变体破坏 ADAT tRNA 脱氨酶复合物的活性,并损害神经元迁移。

Del-Pozo-Rodriguez, Jordi; Tilly, Peggy; Lecat, Romain; Vaca, Hugo Rolando; Mosser, Laureline; Brivio, Elena; Balla, Till; Gomes, Marina Vitoria; Ramos-Morales, Elizabeth; Schwaller, Noémie; Salinas-Giegé, Thalia; VanNoy, Grace; England, Eleina M; Kern Lovgren, Alysia; O'Leary, Melanie; Chopra, Maya; Meave Ojeda, Naomi; Toosi, Mehran Beiraghi; Eslahi, Atieh; Alerasool, Masoome; Mojarrad, Majid; Pais, Lynn S; Yeh, Rebecca C; Gable, Dustin L; Hashem, Mais O; Abdulwahab, Firdous; Rakiz Alqurashi, Muath; Sbeih, Loai Z; Adas Blanco, Omar Abu; Khater, Renad Abu; Oprea, Gabriela; Rad, Aboulfazl; Alzaidan, Hamad; Aldhalaan, Hesham; Tous, Ehab; Alsagheir, Afaf; Alowain, Mohammed; Tamim, Abdullah; Alfayez, Khowlah; Alhashem, Amal; Alnuzha, Aisha; Kamel, Mona; Al-Awam, Bashayer S; Elnaggar, Walaa; Almenabawy, Nihal; O'Donnell-Luria, Anne; Neil, Jennifer E; Gleeson, Joseph G; Walsh, Christopher A; Alkuraya, Fowzan S; AlAbdi, Lama; Elkhateeb, Nour; Selim, Laila; Srivastava, Siddharth; Nedialkova, Danny D; Drouard, Laurence; Romier, Christophe; Bayam, Efil; Godin, Juliette D

pubCounteR: an R package for interrogating published literature for experimentally-derived gene lists within a user-defined biological context

pubCounteR:一个 R 包,用于在用户定义的生物学背景下,检索已发表文献中基于实验的基因列表。

Leer, Marina; Soultoukis, George A; Jähnert, Markus; Oveisi, Masoome; Walther, Dirk; Schulz, Tim J

Effect of Incorporating Oat Flour and Sourdough on the Sensory and Technological Characteristics of Bread

燕麦粉和天然酵母的加入对面包感官和工艺特性的影响

Sayadi, Masoome; Arianfar, Akram; Mohamadi Sani, Ali; Sheikholeslami, Zahra

Plasma biomarkers predict long‐term longitudinal cognitive decline in individuals at‐risk for Alzheimer's disease: differences across demographic groups

血浆生物标志物可预测阿尔茨海默病高危人群的长期纵向认知衰退:不同人口群体之间存在差异

Rezaeian, Sanaz; Razmjooei, Fatemeh; Pourmokhtari, Masoome; Abdoli, Amir; Mofazzal Jahromi, Mirza Ali; Bagheri, Kambiz; Escalante, Armand González; Ortiz‐Romero, Paula; Torres‐Torronteras, Javier; Jiménez‐Moyano, Esther; Blasco‐Forniés, Helena; Diego‐Osaba, Marina De; Anastasi, Federica; Triana‐Baltzer, Gallen; Kolb, Hartmuth Christian; Vanmechelen, Eugeen; López‐Martos, David; Sánchez‐Benavides, Gonzalo; Grau‐Rivera, Oriol; Minguillon, Carolina; Fauria, Karine; Blennow, Kaj; Zetterberg, Henrik; Ashton, Nicholas J; Vilor‐Tejedor, Natalia; del Campo, Marta; Suárez‐Calvet, Marc

A communicative model of premenstrual syndrome with social determinants of health: a path analysis

基于社会健康决定因素的经前综合征沟通模型:路径分析

Vakili, Fatemeh; Nasiri, Malihe; Jahanfar, Shayesteh; Alamolhoda, Seideh Hanieh; Hamzehgardeshi, Zeinab; Salehi, Farank; Fini, Masoome Hooshmand

HPV-Related Pelvic Squamous Cell Carcinoma of Unknown Primary: Two Case Studies

HPV相关盆腔鳞状细胞癌原发灶不明:两例病例研究

Soltani, Sepideh; Dashti, Sahar; Garousi, Maryam; Mirzaee, Elahe; Kaheh, Majid; Zolfaghari, Masoome; Abolhasani, Maryam; Nikoofar, Alireza

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足的脑白质营养不良伴癫痫性脑病

De Pace Raffaella, Gonzalez Carlos Dominguez, Williamson Chad D, Helman Guy, Sanderson Leslie E, Disanza Brianna, Hsiao-Sánchez Nicole, Pizzino Amy, Muirhead Kayla, Bonkowsky Joshua L, Taft Ryan J, Sannaa Nouriya A, Dias Patricia, Quintas Ana Sofia, Mutlu Mehmet Burak, Bas Hasan, Oztürk Hasan, Mojarrad Majid, Alerasool Masoome, Sheikhani Shahriar, Jabbar Hayder Kadhim, Issa Awatif Hameed, Houlden Henry, Zonic Emir, Barakat Tahsin Stefan, Tripolski Kornelia, Romito Antonio, Teferedegn Eden, Vossough Arastoo, Whitehead Matthew T, Bhoj Elizabeth, Ahrens-Nicklas Rebecca C, Simons Cas, Wolvetang Ernst, van Ham Tjakko J, Bertoli-Avella Aida M, Maroofian Reza, Bonifacino Juan S, Vanderver Adeline