スポンサーリンク
Department of Clinical Genetics, Medical Institute of Bioregulation, Kyushu University | 論文
- A novel KCNQ4 one-base deletion in a large pedigree with hearing loss : implication for the genotype-phenotype correlation
- Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
- Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome : two missense mutations (R45Q and P396S) and a 17-kb deletion
- Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese population
- Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia
- Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations
- A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia
- Sequence analysis, gene expression, and chromosomal assignment of mouse Borg4 gene and its human orthologue
- Neonatal-Onset Brainstem Reticular Reflex Myoclonus Following a Prenatal Brain Insult : Generalized Myoclonic Jerk and a Brainstem Lesion
- Cloning, expression analysis, and chromosomal localization of a novel butyrophilin-like receptor
- Isolation and chromosomal mapping of a novel human gene showing homology to Na^+/PO4 cotransporter
- A novel human gene whose product shares significant homology with the bovine brain-specific protein p25 on chromosome 5p15.3
- Isolation, tissue expression, and chromosomal assignment of a novel human gene which encodes a protein with RING finger motif
- Cloning, expression analysis, and chromosomal localization of HIP1R, an isolog of huntingtin interacting protein (HIP1)
- Isolation, tissue expression, and chromosomal assignment of human RGS5, a novel G-protein signaling regulator gene
- Molecular analysis of the transferrin gene in a patient with hereditary hypotransferrinemia
- Ehlers-Danlos Syndrome and Congenital Heart Anomalies
- Primary Hypoparathyroidism in Turner's Syndrome
- Cross Sections and Angular Distributions for the ^B (e,p) and ^B (e,d) Reactions in the Giant Resonance Region (Nuclear Physics)
- A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria
スポンサーリンク