スポンサーリンク
Japan Society of Human Genetics | 論文
- Steroid Sulfatase Deficiency in Japanese Patients--Characterization of X-Linked Ichthyosis by Using Polymerase Chain Reaction
- THE COHEN SYNDROME : REPORT OF A CASE
- Characteristics of Dynamic Mutation in Japanese Myotonic Dystrophy
- AGENESIS OF CORPUS CALLOSUM IN THREE SIBS
- MALPUECH FACIAL CLEFTING SYNDROME IN A JAPANESE BOY WITH CARDIAC DEFECTS
- Cosmid Clones from Microdissected Human Chromosomal Region 15q11-q13
- Genomic Cloning and Partial Characterization of Human Chymotrypsinogen Gene
- Evolutionary Conservation of Chymotrypsinogen Gene--Genomic Analysis and Protein Modeling
- Isolation of Human Chromosome 21-Specific Cosmids and Their Uses in Mapping of Cosmid Contigs on Chromosomal Subregions
- ALLELE FREQUENCIES OF INTRAGENIC, AND 5' AND 3' MARKERS OF THE DYSTROPHIN GENE IN JAPANESE FAMILIES AFFLICTED WITH DUCHENNE OR BECKER MUSCULAR DYSTROPHY
- Localization of PMP-22 Gene(Candidate Gene for the Charcot-Marie-Tooth Disease 1A) to Band 17p11.2 by Direct R-Banding Fluorescence In Situ Hybridization
- A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12
- SOMATIC CELL HETEROGENEITY BETWEEN DNA EXTRACTED FROM LYMPHOCYTES AND SKELETAL MUSCLE IN CONGENITAL MYOTONIC DYSTROPHY
- DETECTION OF THE CTG REPEAT EXPANSION IN CONGENITAL MYOTONIC DYSTROPHY
- The Attitude of Japanese Physicians Regarding Genetic Service for Autosomal Dominant Polycystic Kidney Disease(ADPKD)
- SUPPRESSION OF SERUM-INDUCED c-jun EXPRESSION BY ACTIVATED Ki-ras IN HUMAN COLON CANCER CELLS
- ESTIMATION OF THE PHYSICAL DISTANCE BETWEEN MAJOR GENOMIC MARKERS IN THE WERNER SYNDROME LOCUS (8p11.2-12) BY DUAL-COLOR FISH ANALYSIS
- DNA TYPING OF HLA IN THE PATIENTS WITH MOYAMOYA DISEASE
- Duplication Polymorphism within the Third Intron of the p53 Gene Is a Rare Event in Japanese Population
- Generalized Resistance to Thyroid Hormone--Identification of a Novel c-erbAβ Thyroid Hormone Receptor Variant(Leu450) in a Japanese Family and Analysis of Its Secondary Structure by the Chou and Fasman Method