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

Heritable Pulmonary Arterial Hypertension in a Patient With Empty Sella Syndrome: A Case Report

空蝶鞍综合征患者遗传性肺动脉高压:病例报告

Alghamdi, Bader; Aljuhani, Shahad; Alansari, Ghaday; BinHumaid, Nouf M; Alkahtani, Abdulkareem

The clinical utility of rapid exome sequencing in a consanguineous population

快速外显子组测序在近亲结婚人群中的临床应用价值

Monies, Dorota; Goljan, Ewa; Assoum, Mirna; Albreacan, Muna; Binhumaid, Faisal; Subhani, Shazia; Boureggah, Abdulmlik; Hashem, Mais; Abdulwahab, Firdous; Abuyousef, Omar; Temsah, Mohamad H; Alsohime, Fahad; Kelaher, James; Abouelhoda, Mohamed; Meyer, Brian F; Alkuraya, Fowzan S

Fracture Resistance of Root-Canal Treated Premolars Restored with Dentin Replacement Materials: An In-vitro Study

根管治疗后采用牙本质替代材料修复的前磨牙的抗折强度:一项体外研究

Aldegheishem, Alhanouf S; Barakat, Reem M; AlRabiah, Alanood M; Binhumaid, Asmaa H; Eldwakhly, Elzahraa

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

HOPS复合物亚基VPS41的双等位基因变异会导致小脑共济失调和膜转运异常。

Sanderson, Leslie E; Lanko, Kristina; Alsagob, Maysoon; Almass, Rawan; Al-Ahmadi, Nada; Najafi, Maryam; Al-Muhaizea, Mohammad A; Alzaidan, Hamad; AlDhalaan, Hesham; Perenthaler, Elena; van der Linde, Herma C; Nikoncuk, Anita; Kühn, Nikolas A; Antony, Dinu; Owaidah, Tarek Mustafa; Raskin, Salmo; Vieira, Luana Gabriela Dalla Rosa; Mombach, Romulo; Ahangari, Najmeh; Silveira, Tainá Regina Damaceno; Ameziane, Najim; Rolfs, Arndt; Alharbi, Aljohara; Sabbagh, Raghda M; AlAhmadi, Khalid; Alawam, Bashayer; Ghebeh, Hazem; AlHargan, Aljouhra; Albader, Anoud A; Binhumaid, Faisal S; Goljan, Ewa; Monies, Dorota; Mustafa, Osama M; Aldosary, Mazhor; AlBakheet, Albandary; Alyounes, Banan; Almutairi, Faten; Al-Odaib, Ali; Aksoy, Durdane Bekar; Basak, A Nazli; Palvadeau, Robin; Trabzuni, Daniah; Rosenfeld, Jill A; Karimiani, Ehsan Ghayoor; Meyer, Brian F; Karakas, Bedri; Al-Mohanna, Futwan; Arold, Stefan T; Colak, Dilek; Maroofian, Reza; Houlden, Henry; Bertoli-Avella, Aida M; Schmidts, Miriam; Barakat, Tahsin Stefan; van Ham, Tjakko J; Kaya, Namik

Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

更正:隐性VARS2基因突变导致一种新型综合征,其特征为癫痫、智力低下、身材矮小、生长激素缺乏和性腺功能减退。

Alsemari, Abdulaziz; Al-Younes, Banan; Goljan, Ewa; Jaroudi, Dyala; BinHumaid, Faisal; Meyer, Brian F; Arold, Stefan T; Monies, Dorota

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

隐性VARS2基因突变是导致一种新型综合征的根本原因,该综合征的症状包括癫痫、智力低下、身材矮小、生长激素缺乏和性腺功能减退。

Alsemari, Abdulaziz; Al-Younes, Banan; Goljan, Ewa; Jaroudi, Dyala; BinHumaid, Faisal; Meyer, Brian F; Arold, Stefan T; Monies, Dorota

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel

利用靶向肾脏基因检测组分析沙特阿拉伯产前囊性肾病和纤毛病表型患者的遗传谱

Al-Hamed, Mohamed H; Kurdi, Wesam; Alsahan, Nada; Alabdullah, Zainab; Abudraz, Rania; Tulbah, Maha; Alnemer, Maha; Khan, Rubina; Al-Jurayb, Haya; Alahmed, Ahmed; Tahir, Asma I; Khalil, Dania; Edwards, Noel; Al Abdulaziz, Basma; Binhumaid, Faisal S; Majid, Salma; Faquih, Tariq; El-Kalioby, Mohamed; Abouelhoda, Mohamed; Altassan, Nada; Monies, Dorota; Meyer, Brian; Sayer, John A; Albaqumi, Mamdouh

KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability

KCNA4 缺乏症会导致纹状体异常、先天性白内障和智力障碍等综合征。

Kaya, Namik; Alsagob, Maysoon; D'Adamo, Maria Cristina; Al-Bakheet, Albandary; Hasan, Sonia; Muccioli, Maria; Almutairi, Faten B; Almass, Rawan; Aldosary, Mazhor; Monies, Dorota; Mustafa, Osama M; Alyounes, Banan; Kenana, Rosan; Al-Zahrani, Jawaher; Naim, Eva; Binhumaid, Faisal S; Qari, Alya; Almutairi, Fatema; Meyer, Brian; Plageman, Timothy F; Pessia, Mauro; Colak, Dilek; Al-Owain, Mohammed