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Journal of Human Genetics|September 8, 2017
Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD geneGabriella Esposito, Maria Roberta Tremolaterra, Evelina Marsocci, et al.Journal of Human Genetics|July 8, 2016
Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseasesSrilekha Sundaramurthy, Meenakshi Swaminathan, Parveen Sen, et al.Journal of Human Genetics|July 8, 2016
SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humansJing Guan, Dayong Wang, Wenjian Cao, et al.Journal of Human Genetics|September 5, 2020
Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantationNapaporn Tananuvat, Rak Tananuvat, Wattana Chartapisak, et al.Journal of Human Genetics|October 23, 2020
Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletionMehmet Bugrahan Duz, Pelin Ozyavuz CubukJournal of Human Genetics|October 23, 2020
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern OntarioErfan Aref-Eshghi, Jennifer Kerkhof, Deana Alexis Carere, et al.Journal of Human Genetics|November 12, 2020
Novel compound heterozygous variants of tyrosinase gene in an isolated foveal hypoplasia patient without nystagmusTianqi Xu, Qing Zhou, Yiqing Li, et al.Journal of Human Genetics|November 12, 2020
Molecular pathogenesis of breast cancer: impact of miR-99a-5p and miR-99a-3p regulation on oncogenic genesYoshiaki Shinden, Tadahiro Hirashima, Nijiro Nohata, et al.Journal of Human Genetics|September 10, 2020
Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicismMuhammad Nazmul Haque, Masafumi Ohtsubo, Sachiko Nishina, et al.Journal of Human Genetics|January 19, 2023
Analysis of LIN28A variants in patients with Parkinson's diseaseHao Peng, Yuanzhe Li, Hiroyo Yoshino, et al.Pageof 351