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Journal of Human Genetics|January 11, 2022
Host genetic factors of COVID-19 susceptibility and disease severity in a Thai populationMonpat Chamnanphon, Monnat Pongpanich, Thitima Benjachat Suttichet, et al.Journal of Human Genetics|January 12, 2022
Cis-regulated expression of non-conserved lincRNAs associates with cardiometabolic related traitsTingyi Cao, Marcella E O'Reilly, Caitlin Selvaggi, et al.Journal of Human Genetics|January 17, 2022
A variant in orexin receptor-2 is associated with self-reported daytime sleepiness in the Japanese populationTaku Miyagawa, Mihoko Shimada, Yoshiko Honda, et al.Journal of Human Genetics|January 20, 2022
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patientsImed Mabrouk, Nawal Al-Harthi, Rahma Mani, et al.Journal of Human Genetics|January 2, 2022
Prevalence of common aneuploidy in twin pregnanciesAkiko Konishi, Osamu Samura, Jin Muromoto, et al.Journal of Human Genetics|January 6, 2022
Novel biallelic mutations in PADI6 in patients with early embryonic arrestJie Dong, Jing Fu, Zheng Yan, et al.Journal of Human Genetics|January 5, 2022
Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disabilityAyca Dilruba Aslanger, Beyza Goncu, Omer Faruk Duzenli, et al.Journal of Human Genetics|October 12, 2022
Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunctionMasanori Fujimoto, Yuji Nakamura, Toshihiko Iwaki, et al.Journal of Human Genetics|August 29, 2022
Genetics of autism spectrum disorders and future directionYuka Yasuda, Junya Matsumoto, Kenichiro Miura, et al.Journal of Human Genetics|April 25, 2019
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancyBjörn Fischer-Zirnsak, Rainer Koenig, Franz Alisch, et al.Pageof 352