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American Journal of Human Genetics|April 11, 2003
Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndromeNoriko Miyake, Naohiro Kurotaki, Hirobumi Sugawara, et al.Genetics in Medicine Open|December 13, 2024
Loss of function in <i>NSD2</i> causes DNA methylation signature similar to that in Wolf-Hirschhorn syndromeTomoko Kawai, Shiori Kinoshita, Yuka Takayama, et al.American Journal of Medical Genetics. Part A|May 3, 2013
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literatureTomoki Kosho, Nobuhiko Okamoto, Hirofumi Ohashi, et al.Journal of Human Genetics|October 29, 2010
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomaliesShin Hayashi, Issei Imoto, Yoshinori Aizu, et al.Nature Genetics|December 18, 2007
ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysmsYoshihiro Onouchi, Tomohiko Gunji, Jane C Burns, et al.Nature Genetics|March 20, 2012
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndromeYoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi, et al.Human Mutation|October 1, 2003
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletionNaohiro Kurotaki, Naoki Harada, Osamu Shimokawa, et al.Human Molecular Genetics|April 29, 2010
Common variants in CASP3 confer susceptibility to Kawasaki diseaseYoshihiro Onouchi, Kouichi Ozaki, Jane C Buns, et al.Nature|October 19, 2007
Genome-wide detection and characterization of positive selection in human populationsPardis C Sabeti, Patrick Varilly, Ben Fry, et al.Nature|October 19, 2007
A second generation human haplotype map of over 3.1 million SNPs, Kelly A Frazer, Dennis G Ballinger, et al.Pageof 13