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Journal of Human Genetics|July 12, 2002
Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosisJun Ishii, Makoto Nagano, Takeshi Kujiraoka, et al.Journal of Human Genetics|July 12, 2002
Web-based detection of genotype errors in pedigree dataMasayuki Saito, Akira Saito, Naoyuki KamataniJournal of Human Genetics|July 12, 2002
Complete XY gonadal dysgenesis and aspects of the SRYgenotype and gonadal tumor formationShigeki Uehara, Masaki Hashiyada, Kazuyo Sato, et al.Journal of Human Genetics|August 16, 2002
Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome?Marie Trkova, Marie Hladikova, Pavel Kasal, et al.Journal of Human Genetics|May 17, 2001
Identification of three missense mutations in the peroxisome proliferator-activated receptor alpha gene in Japanese subjects with maturity-onset diabetes of the youngM Hara, X Wang, V P Paz, et al.Journal of Human Genetics|May 17, 2001
Cloning and sequencing of a novel human gene which encodes a putative hydroxylaseC Iriyama, S Matsuda, R Katsumata, et al.Journal of Human Genetics|July 14, 2001
Linkage disequilibrium and haplotype analysis among eight novel single-nucleotide polymorphisms in the human tissue-type plasminogen activator (t-PA) geneI Nakazawa, T Nakajima, T Ishigami, et al.Journal of Human Genetics|July 14, 2001
Single nucleotide polymorphisms of RXRA encoding retinoid X receptor alphaR A Hegele, H CaoJournal of Human Genetics|June 8, 2001
Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1)W Matsuyama, M Nakagawa, T Moritoyo, et al.Journal of Human Genetics|April 20, 2001
Construction of 700 human/mouse A9 monochromosomal hybrids and analysis of imprinted genes on human chromosome 6J Inoue, K Mitsuya, S Maegawa, et al.Pageof 351