U.S. flag

An official website of the United States government

Display Settings:

Format
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 3

1.
Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis
Chen Cheng, Xiuxiu Li, Sheng Zhao, Qian Feng, Xiang Ren, Xinlin Chen
BMC Med Genomics. 2022; 15: 55. Published online 2022 Mar 12. doi: 10.1186/s12920-022-01205-z
PMCID:
PMC8917749
AbstractArticlePDF–1.4M
2.
Whole‐exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy
Xinyue Zhang, Yanqin You, Xiaoxiao Xie, Hong Xu, Honghui Zhou, Yuanmei Lei, Pei Sun, Yuanguang Meng, Longxia Wang, Yanping Lu
Mol Genet Genomic Med. 2020 Dec; 8(12): e1524. Published online 2020 Oct 8. doi: 10.1002/mgg3.1524
PMCID:
PMC7767551
AbstractArticlePDF–1.1M
3.
Ellis-Van Creveld syndrome
Geneviève Baujat, Martine Le Merrer
Orphanet J Rare Dis. 2007; 2: 27. Published online 2007 Jun 4. doi: 10.1186/1750-1172-2-27
PMCID:
PMC1891277
AbstractArticlePDF–449K

Display Settings:

Format
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

You are here: NCBI > Literature > PubMed Central (PMC)
Support Center