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Journal of Human Genetics|October 18, 2022
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcomeTakuya Hiraide, Tenpei Akita, Kenji Uematsu, et al.Journal of Human Genetics|February 27, 2010
Identification of CYP19A1 single-nucleotide polymorphisms and their haplotype distributions in a Korean populationSu-Jun Lee, Woo-Young Kim, Ji-Yeob Choi, et al.Journal of Human Genetics|September 19, 2019
MicroRNA-370 functions as a tumor suppressor in hepatocellular carcinoma via inhibition of the MAPK/JNK signaling pathway by targeting BEX2Xin Wang, Wenyan Zhu, Chuanshen Xu, et al.Journal of Human Genetics|November 8, 2018
Clinical spectrum of male patients with OFD1 mutationsNana Sakakibara, Naoya Morisada, Kandai Nozu, et al.Journal of Human Genetics|July 25, 2019
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndromeHiromi Aoi, Takeshi Mizuguchi, José Ricard Ceroni, et al.Journal of Human Genetics|August 15, 2019
Comparison of mitochondrial DNA variants detection using short- and long-read sequencingAhmed N Alkanaq, Kohei Hamanaka, Futoshi Sekiguchi, et al.Journal of Human Genetics|August 2, 2019
Correction to: Investigation of novel variations of ORAI1 gene and their association with Kawasaki diseaseKyaw Thiha, Yoichi Mashimo, Hiroyuki Suzuki, et al.Journal of Human Genetics|August 8, 2019
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of IndiaMehul Mistri, Sanjeev Mehta, Dhaval Solanki, et al.Journal of Human Genetics|March 14, 2014
Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher diseaseKyu Ha Woo, Beom Hee Lee, Sun Hee Heo, et al.Journal of Human Genetics|March 11, 2021
Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEAShiroh Miura, Tomofumi Shimojo, Takuya Morikawa, et al.Pageof 351