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Journal of Human Genetics|February 26, 2003
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyriaAsa Wiman, Ylva Floderus, Pauline HarperJournal of Human Genetics|February 26, 2003
Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 geneRamon M Coral-Vazquez, Haydee Rosas-Vargas, Pedro Meza-Espinosa, et al.Journal of Human Genetics|February 26, 2003
Isolation and characterization of a novel human NM23-H1B gene, a different transcript of NM23-H1Xiaohua Ni, Shaohua Gu, Jianliang Dai, et al.Journal of Human Genetics|March 8, 2003
Construction and characterization of a vestibular-specific cDNA library using T7-based RNA amplificationSatoko Abe, Kumiko Koyama, Shin-ichi Usami, et al.Journal of Human Genetics|May 24, 2003
Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 geneYuko Fujita, Yoichi Ezura, Mitsuru Emi, et al.Journal of Human Genetics|May 30, 2003
The role of the IKAP gene polymorphisms in atopic diseases in the middle European populationMarcel Schüller, Lydie Izakovičová Hollá, Dana Bučková, et al.Journal of Human Genetics|May 13, 2003
Association of single-nucleotide polymorphisms in the polymeric immunoglobulin receptor gene with immunoglobulin A nephropathy (IgAN) in Japanese patientsWataru Obara, Aritoshi Iida, Yasushi Suzuki, et al.Journal of Human Genetics|May 28, 2003
Molecular cloning and characterization of a novel human J-domain protein gene (HDJ3) from the fetal brainJuxiang Chen, Yan Huang, Hai Wu, et al.Journal of Human Genetics|May 28, 2003
Association study of autoimmune thyroid disease at 5q23-q33 in Japanese patientsTakashi Akamizu, Hitomi Hiratani, Satoshi Ikegami, et al.Journal of Human Genetics|May 28, 2003
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)Henian Cao, Robert A HegelePageof 352