スポンサーリンク
Japan Society of Human Genetics | 論文
- DETECTION OF ANEUPLOIDY IN HUMAN SPERMATOZOA USING FLUORESCENCE IN SITU HYBRIDIZATION (FISH)
- TWO NOVEL MUTATIONS IN THE α-GALACTOSIDASE GENE IN JAPANESE CLASSICAL HEMIZYGOTES WITH FABRY DISEASE
- StyI POLYMORPHISM AT NUCLEOTIDE 1610 IN THE HUMAN PLATELET GLYCOPROTEIN Ib ALPHA GENE
- G→A TRANSITION AT NUCLEOTIDE 2110 IN THE HUMAN PLATELET GLYCOPROTEIN (GP) IX GENE RESULTING IN ALA^(ACC)→THR(GCC) SUBSTITUTION
- FAMILIAL PERICENTRIC INVERSION INCIDENTALLY DETECTED AT PRENATAL DIAGNOSIS
- A POINT MUTATION, C TO T, IN EXON 8 OF THE PORPHOBILINOGEN DEAMINASE GENE IN A JAPANESE FAMILY WITH ACUTE INTERMITTENT PORPHYRIA
- LINKAGE AND HAPLOTYPE ANALYSIS OF FAMILIAL EARLY-ONSET ALZHEIMER DISEASE IN JAPANESE POPULATION
- FREQUENCIES OF POLYMORPHISMS IN THE RHODOPSIN GENE OF JAPANESE RETINITIS PIGMENTOSA AND NORMAL INDIVIDUALS
- CONGENITAL BILATERAL PERISYLVIAN SYNDROME : FIRST REPORT IN A JAPANESE PATIENT
- AN AZOOSPERMIC MALE WITH AN UNBALANCED AUTOSOMAL-Y TRANSLOCATION
- A KERATIN K10 GENE MUTATION IN A JAPANESE PATIENT WITH EPIDERMOLYTIC HYPERKERATOSIS
- Interstitial Deletion of the Long Arm of Chromosome 11 Determined by Fluorescence In Situ Hybridization
- Six Dinucleotide Repeat Polymorphisms on Chromosome 7
- IDENTIFICATION OF iso(18p) MARKER CHROMOSOME BY FLUORESCENCE IN SITU HYBRIDIZATION WITH SINGLE-COPY DNA PROBE
- Deletion Detection for Diagnosis of Duchenne Muscular Dystrophy in the Japanese Population--Comparison Between the Polymerase Chain Reaction and the Southern Blot Analysis
- HIGH INCIDENCE OF A POLYMORPHIC VARIANT OF ERYTHROCYTE MEMBRANE PROTEIN, BAND 3-MEMPHIS, ON A WESTERN JAPANESE ISLAND
- GERMLINE MUTATIONS OF THE APC GENE IN TWO JAPANESE ADENOMATOUS POLYPOSIS PATIENTS
- POLYMORPHISM OF EXTRACELLULAR SUPEROXIDE DISMUTASE (EC-SOD) GENE : RELATION TO THE MUTATION RESPONSIBLE FOR HIGH EC-SOD LEVEL IN SERUM
- Two Japanese Cases with Microcephalic Primordial Dwarfism--Classical Seckel Syndrome and Osteodysplastic Primordial Dwarfism Type 2
- THREE DINUCLEOTIDE REPEAT POLYMORPHISMS AT THE D8S1217, D8S1220, AND D8S1221 LOCI