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Journal of Human Genetics|September 18, 2001
Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same familyM Mizoguchi, T Tamura, A Yamaki, et al.Journal of Human Genetics|September 18, 2001
Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysisA Namba, S Abe, H Shinkawa, et al.Journal of Human Genetics|November 28, 2001
Molecular and cell biological aspects of Alzheimer diseaseB S ShastryJournal of Human Genetics|May 17, 2003
Association of positional and functional candidate genes FGF1, FBN2, and LOX on 5q31 with intracranial aneurysmTaku Yoneyama, Hidetoshi Kasuya, Hideaki Onda, et al.Journal of Human Genetics|February 26, 2003
Association of the -381T/C promoter variation of the brain natriuretic peptide gene with low bone-mineral density and rapid postmenopausal bone lossMitsuko Kajita, Yoichi Ezura, Hironori Iwasaki, et al.Journal of Human Genetics|May 6, 2003
Lewis enzyme (alpha1-3/4 fucosyltransferase) polymorphisms do not explain the Lewis phenotype in the gastric mucosa of a Portuguese populationJacinta Serpa, Raquel Almeida, Carla Oliveira, et al.Journal of Human Genetics|May 6, 2003
Calcr, a brain-specific imprinted mouse calcitonin receptor gene in the imprinted cluster of the proximal region of chromosome 6Hidetoshi Hoshiya, Makiko Meguro, Akiko Kashiwagi, et al.Journal of Human Genetics|July 3, 2003
CpG dinucleotide methylation patterns in the human androgen receptor gene and X-chromosome inactivation in peripheral blood leukocytes of phenotypically normal womenKazuyo Sato, Masaki Hashiyada, Shigeki Uehara, et al.Journal of Human Genetics|November 22, 2018
Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseasesKei Murayama, Masaru Shimura, Zhimei Liu, et al.Journal of Human Genetics|February 16, 2019
ClinTAD: a tool for copy number variant interpretation in the context of topologically associated domainsJacob D Spector, Arun P WiitaPageof 353