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

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility

OLA1基因的双等位基因变异会导致一种伴有关节过度活动的神经发育障碍。

AlAbdi, Lama; Sezer, Abdullah; Alzahrani, Fatema; Cevik, Sebiha; Demir, Zanyar; Abdullah, Nor Linda; Durukan, Özlem; Dallı, Efe; Hashem, Mais O; Abuyousef, Omar; Aljamal, Bayan; Helaby, Rana; Radwan, Mona; Jaafar, Amal; Alshidi, Tarfa; Salem, Israa; Hamid, Halima; Alhaddad, Bader; Bakur, Khadijah; Taşdelen, Elifcan; Kılıç, Mustafa; Al-Owain, Mohammed; Alhashem, Amal; Bratland, Eirik; Paulsen, Julie; Houge Douzgos, Gunnar; Politi, Anya Revah; Uguen, Kevin; Masson, Emmanuelle; Audebert, Severine; AlAnzi, Talal; Arold, Stefan T; Ergin, Bora; Ibrahim, Leena A; Kaplan, Oktay I; Alkuraya, Fowzan S

SLK is mutated in individuals with a neurodevelopmental disorder.

SLK基因突变与神经发育障碍有关

Alabdi Lama, Altuwaijri Norah, Zhu Jun-Yi, Efthymiou Stephanie, Lee Hangnoh, Duan Jianli, Salem Israa, Yu Piao, Abdullah Nor Linda, Alzahrani Fatema, Xu Qing, Felemban Mashael M, Alfaifi Abdullah, Rahman Fatima, Christoforou Marilena, Maqbool Shazia, Martinez-Agosto Julian A, Alsaif Hessa S, Hashem Mais, Helaby Rana, Alsulaiman Ahood, Maroofian Reza, Houlden Henry, Arold Stefan T, Ibrahim Leena A, Han Zhe, Alkuraya Fowzan S

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects

MYCBP2基因功能缺失变异会导致神经行为表型和胼胝体缺陷。

AlAbdi, Lama; Desbois, Muriel; Rusnac, Domniţa-Valeria; Sulaiman, Raashda A; Rosenfeld, Jill A; Lalani, Seema; Murdock, David R; Burrage, Lindsay C; Billie Au, Ping Yee; Towner, Shelley; Wilson, William G; Wong, Lawrence; Brunet, Theresa; Strobl-Wildemann, Gertrud; Burton, Jennifer E; Hoganson, George; McWalter, Kirsty; Begtrup, Amber; Zarate, Yuri A; Christensen, Elyse L; Opperman, Karla J; Giles, Andrew C; Helaby, Rana; Kania, Artur; Zheng, Ning; Grill, Brock; Alkuraya, Fowzan S

Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement.

MAN2A2 的纯合截断变异会导致一种新的先天性糖基化障碍,并伴有神经系统受累

Mahajan Sonal, Ng Bobby George, AlAbdi Lama, Earnest Paul Daniel James, Sosicka Paulina, Patel Nisha, Helaby Rana, Abdulwahab Firdous, He Miao, Alkuraya Fowzan S, Freeze Hudson H

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

孟德尔遗传病中转录本有害变异的分析:对基于RNA的诊断的意义

Maddirevula, Sateesh; Kuwahara, Hiroyuki; Ewida, Nour; Shamseldin, Hanan E; Patel, Nisha; Alzahrani, Fatema; AlSheddi, Tarfa; AlObeid, Eman; Alenazi, Mona; Alsaif, Hessa S; Alqahtani, Maha; AlAli, Maha; Al Ali, Hatoon; Helaby, Rana; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Hanna, Nadine; Monies, Dorota; Derar, Nada; Alsagheir, Afaf; Alhashem, Amal; Alsaleem, Badr; Alhebbi, Hamoud; Wali, Sami; Umarov, Ramzan; Gao, Xin; Alkuraya, Fowzan S

Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits

视叶小叶钙蛋白酶 CAPN15 的双等位基因变异与先天性眼部异常、耳聋和其他神经发育缺陷有关。

Zha, Congyao; Farah, Carole A; Holt, Richard J; Ceroni, Fabiola; Al-Abdi, Lama; Thuriot, Fanny; Khan, Arif O; Helaby, Rana; Lévesque, Sébastien; Alkuraya, Fowzan S; Kraus, Alison; Ragge, Nicola K; Sossin, Wayne S