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Links from Nucleotide

Items: 4

1.
A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing
Chunli Wei, Lisha Yang, Jingliang Cheng, Saber Imani, Shangyi Fu, Hongbin Lv, Yumei Li, Rui Chen, Elaine Lai-Han Leung, Junjiang Fu
BMC Med Genet. 2018; 19: 99. Published online 2018 Jun 11. doi: 10.1186/s12881-018-0602-0
PMCID:
PMC5996530
AbstractArticlePDF–1006K
2.
Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations
Chiara M. Eandi, Laura Dallorto, Roberta Spinetta, Maria Pia Micieli, Mario Vanzetti, Alessandro Mariottini, Ilaria Passerini, Francesca Torricelli, Camilla Alovisi, Cristiana Marchese
Sci Rep. 2017; 7: 15681. Published online 2017 Nov 15. doi: 10.1038/s41598-017-16014-z
PMCID:
PMC5688149
AbstractArticlePDF–1.7M
3.
Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q
S Pieke-Dahl, C Moller, P Kelley, L Astuto, C Cremers, M Gorin, W Kimberling
J Med Genet. 2000 Apr; 37(4): 256–262. doi: 10.1136/jmg.37.4.256
PMCID:
PMC1734554
SummaryPDF–149K
4.
Genetic heterogeneity of Usher syndrome type II.
S Pieke Dahl, W J Kimberling, M B Gorin, M D Weston, J M Furman, A Pikus, C Möller
J Med Genet. 1993 Oct; 30(10): 843–848. doi: 10.1136/jmg.30.10.843
PMCID:
PMC1016567
SummaryPage BrowsePDF–1.4M

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