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

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome

GZF1基因突变扩大了拉森综合征的遗传异质性

Patel, Nisha; Shamseldin, Hanan E; Sakati, Nadia; Khan, Arif O; Softa, Ameen; Al-Fadhli, Fatima M; Hashem, Mais; Abdulwahab, Firdous M; Alshidi, Tarfa; Alomar, Rana; Alobeid, Eman; Wakil, Salma M; Colak, Dilek; Alkuraya, Fowzan S

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

通过临床基因组学方法鉴定出儿童白内障的新表型和基因位点

Patel, Nisha; Anand, Deepti; Monies, Dorota; Maddirevula, Sateesh; Khan, Arif O; Algoufi, Talal; Alowain, Mohammed; Faqeih, Eissa; Alshammari, Muneera; Qudair, Ahmed; Alsharif, Hadeel; Aljubran, Fatimah; Alsaif, Hessa S; Ibrahim, Niema; Abdulwahab, Firdous M; Hashem, Mais; Alsedairy, Haifa; Aldahmesh, Mohammed A; Lachke, Salil A; Alkuraya, Fowzan S

Characterizing the morbid genome of ciliopathies

纤毛病致病基因组的特征分析

Shaheen, Ranad; Szymanska, Katarzyna; Basu, Basudha; Patel, Nisha; Ewida, Nour; Faqeih, Eissa; Al Hashem, Amal; Derar, Nada; Alsharif, Hadeel; Aldahmesh, Mohammed A; Alazami, Anas M; Hashem, Mais; Ibrahim, Niema; Abdulwahab, Firdous M; Sonbul, Rawda; Alkuraya, Hisham; Alnemer, Maha; Al Tala, Saeed; Al-Husain, Muneera; Morsy, Heba; Seidahmed, Mohammed Zain; Meriki, Neama; Al-Owain, Mohammed; AlShahwan, Saad; Tabarki, Brahim; Salih, Mustafa A; Faquih, Tariq; El-Kalioby, Mohamed; Ueffing, Marius; Boldt, Karsten; Logan, Clare V; Parry, David A; Al Tassan, Nada; Monies, Dorota; Megarbane, Andre; Abouelhoda, Mohamed; Halees, Anason; Johnson, Colin A; Alkuraya, Fowzan S

TLE6 mutation causes the earliest known human embryonic lethality

TLE6 突变导致已知最早的人类胚胎死亡

Anas M Alazami, Salma M Awad, Serdar Coskun, Saad Al-Hassan, Hadia Hijazi, Firdous M Abdulwahab, Coralie Poizat, Fowzan S Alkuraya