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

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

MDGA2纯合功能缺失变异会导致发育性和癫痫性脑病。

Morsy, Heba; Kim, Hyeonho; Jang, Gyubin; Zaki, Maha S; Severino, Mariasavina; Abdelrazek, Ibrahim M; Hussien, Haytham; Self, Eleanor; Albaradie, Raidah Saleem; Bakur, Khadijah; Firoozfar, Zahra; Efthymiou, Stephanie; Noureldeen, Mahmoud M; Nabil, Amira; Alvi, Javeria Raza; Molavi, Fateme; Alavi, Shahryar; Alibakhshi, Reza; Topcu, Vehap; Mancilar, Hanifenur; Uctepe, Eyyup; Yesilyurt, Ahmet; Aldhalaan, Hesham; Showki Tous, Ehab Salah; Alhaddad, Bader; Elbendary, Hasnaa M; Scardamaglia, Annarita; Murphy, David; Yépez, Vicente A; Gagneur, Julien; Omar, Tarek I; Abd Elmaksoud, Marwa; Vandrovocova, Jana; Abdalla, Ebtessam; Reilly, Mary M; Sultan, Tipu; Alkuraya, Fowzan S; Gleeson, Joseph G; Um, Ji Won; Houlden, Henry; Ko, Jaewon; Maroofian, Reza

A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum

Rubinstein-Taybi综合征中CREBBP基因内重复的新型变异:一例病例报告拓展了基因型-表型谱

Dursun, Enes; Uctepe, Eyyup; Guler, Serhat; Mancilar, Hanifenur; Yesilyurt, Ahmet

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

MRPL49基因的双等位基因变异会导致不同的临床表现,包括感觉神经性听力损失、脑白质营养不良和卵巢功能不全。

Thomas, Huw B; Demain, Leigh A M; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B; Oláhová, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W; Munro, Kevin J; Alkuraya, Fowzan S; Jamieson, Peter; Ahmed, Zubair M; Leal, Suzanne M; Taylor, Robert W; Wittig, Ilka; O'Keefe, Raymond T; Newman, William G

TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature

TRAPPC9相关智力障碍:两例新病例报告及文献综述

Uctepe, Eyyup; Yesilyurt, Ahmet; Esen, Fatma Nisa; Tumer, Sait; Mancilar, Hanifenur; Sonmez, Fatma Mujgan