Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: PEX1[original query] |
---|
Spectrum of PEX1 and PEX6 variants in Heimler syndrome. European journal of human genetics : EJHG 2016 Jun . Smith Claire E L, Poulter James A, Levin Alex V, Capasso Jenina E, Price Susan, Ben-Yosef Tamar, Sharony Reuven, Newman William G, Shore Roger C, Brookes Steven J, Mighell Alan J, Inglehearn Chris |
Expanding the clinical and genetic spectrum of Heimler syndrome. Orphanet journal of rare diseases 2019 12 14 (1): 290. Gao Feng-Juan, Hu Fang-Yuan, Xu Ping, Qi Yu-He, Li Jian-Kang, Zhang Yong-Jin, Chen Fang, Chang Qing, Song Fang, Shen Si-Mai, Xu Ge-Zhi, Wu Ji-Ho |
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound. Prenatal diagnosis 2020 7 40 (10): 1300-1309. Corsten-Janssen Nicole, Bouman Katelijne, Diphoorn Janouk C D, Scheper Arjen J, Kinds Rianne, El Mecky Julia, Breet Hanna, Verheij Joke B G M, Suijkerbuijk Ron, Duin Leonie K, Manten Gwendolyn T R, van Langen Irene M, Sijmons Rolf H, Sikkema-Raddatz Birgit, Westers Helga, van Diemen Cleo |
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. European journal of human genetics : EJHG 2020 Mar . Hengel Holger, Buchert Rebecca, Sturm Marc, Haack Tobias B, Schelling Yvonne, Mahajnah Muhammad, Sharkia Rajech, Azem Abdussalam, Balousha Ghassan, Ghanem Zaid, Falana Mohammed, Balousha Osama, Ayesh Suhail, Keimer Reinhard, Deigendesch Werner, Zaidan Jimmy, Marzouqa Hiyam, Bauer Peter, Schöls Ludg |
Ethnically unique disease burden and limitations of current expanded carrier screening panels. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2023 9 . Chih-Ling Chen, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Miao-Zi Hung, Yi-Lin Lin, Shin-Yu Lin, Chien-Nan L |
Genetic diagnosis of fetal microcephaly at a single tertiary center in China. Frontiers in genetics 2023 5 14 1112153. You Wang, Fang Fu, Tingying Lei, Li Zhen, Qiong Deng, Hang Zhou, Chunling Ma, Ken Cheng, Ruibin Huang, Ru Li, Qiuxia Yu, Lushan Li, Jin Han, Xin Yang, Dongzhi Li, Can Li |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: