Showing results (1171-1180 of 3,522) with videos related to
Sort By:
Pageof 353
Journal of Human Genetics|May 19, 2004
The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 geneKavita Bhalla, Hilary A Phillips, Joanna Crawford, et al.Journal of Human Genetics|May 19, 2004
Hydrocephalus and Hirschsprung's disease with a mutation of L1CAMNobuhiko Okamoto, Rolando Del Maestro, Rebeca Valero, et al.Journal of Human Genetics|June 29, 2004
Apolipoprotein E polymorphism is associated with age of onset in schizophreniaOlli Kampman, Sami Anttila, Ari Illi, et al.Journal of Human Genetics|June 29, 2004
Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysisYi-Ning Su, Chien-Nan Lee, Shu-Chin Chien, et al.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.Pageof 353