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Introduction | ||
1 | Huntington's Disease | 3 |
On Chorea (1872) | ||
2 | Hemophilia | 6 |
Account of a Remarkable Haemorrhagic Disposition, Existing in Many Individuals of the Same Family (1813) | ||
3 | Duchenne Muscular Dystrophy | 10 |
On Granular and Fatty Degeneration of the Voluntary Muscles (1852) | ||
4 | Hereditary Hemorrhagic Telangiectasia | 16 |
On a Family Form of Recurring Epistaxis, Associated with Multiple Telangiectases of the skin and Mucous Membranes (1901) | ||
5 | Phenylketonuria | 22 |
The Excretion of Phenylpyruvic Acid in the Urine, an Anomaly of Metabolism in Connection with Imbecility (1934) | ||
6 | Alkaptonuria and Autosomal Recessive Inheritance | 29 |
The Incidence of Alkaptonuria: A Study in Chemical Individuality (1902) | ||
7 | Autosomal Dominant Inheritance in Brachydactyly | 35 |
Inheritance of Digital Malformations in Man (1905) | ||
8 | Human Mendelian Inheritance | 41 |
Evidence as to Mendelian Inheritance in Man (1909) | ||
9 | The Sex Chromosomes | 53 |
The Sex Chromosomes (1911) | ||
10 | Mendelian Proportions in a Mixed Population | 62 |
Mendelian Proportions in a Mixed Population (1908) | ||
11 | The Chromosome Number of Man | 67 |
The Chromosome Number of Man (1956) | ||
12 | An Extra Chromosome in Down's Syndrome | 72 |
Study of the Somatic Chromosomes of Nine Mongoloid Children (1959) | ||
13 | Sex Chromosome Anomalies, XXY | 74 |
A Case of Human Intersexuality Having a Possible XXY Sex-determining Mechanism (1959) | ||
14 | Sex Chromosome Anomalies, Turner Syndrome | 74 |
A Sex-chromosome Anomaly in a Case of Gonadal Dysgenesis (Turner's Syndrome) (1959) | ||
15 | Chromosomes and Spontaneous Abortion | 80 |
Chromosome Studies in Spontaneous Abortions (1965) | ||
16 | Fluorescence Patterns of Human Chromosomes | 92 |
The 24 Fluorescence Patterns of the Human Metaphase Chromosomes - Distinguishing Characters and Variability (1971) | ||
17 | Chromosome Abnormality in Leukemia I | 103 |
A Minute Chromosome in Human Chronic Granulocytic Leukemia (1960) | ||
18 | Chromosome Abnormality in Leukemia II | 103 |
A New Consistent Chromosomal Abnormality in Chronic Myelogenous Leukaemia Identified by Quinacrine Fluorescence and Giemsa Staining (1973) | ||
19 | The ABO Blood Group System | 111 |
On Agglutination Phenomena of Normal Human Blood (1901) | ||
20 | Linkage Between Color-blindness and Hemophilia | |
The Linkage between the Genes for Colour-blindness and Haemophilia in Man (1937) | 115 | |
21 | Duffy Blood Group Locus and Chromosome 1 | 130 |
Probable Assignment of the Duffy Blood Group Locus to Chromosome 1 in Man (1968) | ||
22 | Human-Mouse Hybrid Cell Lines | 135 |
Human-Mouse Hybrid Cell Lines Containing Partial Complements of Human Chromosomes and Functioning Human Genes (1967) | ||
23 | A Genetic Linkage Map in Man | 141 |
Construction of a Genetic Linkage Map in Man Using Restriction Fragment Length Polymorphisms (1980) | ||
24 | A DNA Marker Linked to Huntington's Disease | 152 |
A Polymorphic DNA Marker Genetically Linked to Huntington's Disease (1983) | ||
25 | Cloning of DNA in an X Chromosome Deletion Patient | 160 |
Specific Cloning of DNA Fragments Absent from the DNA of a Male Patient with an X Chromosome Deletion (1985) | ||
26 | Inborn Errors of Metabolism | 169 |
The Inborn Errors of Metabolism (1908) | ||
27 | Phenylketonuria II | |
Phenylketonuria: A Problem in Eugenics (1946) | 179 | |
28 | Glycogen Storage Disease | 187 |
Glucose-6-phosphatase of the Liver in Glycogen Storage Disease (1952) | ||
29 | Enzyme Polymorphisms | 191 |
Enzyme Polymorphisms in Man (1966) | ||
30 | Sickle Cell Anemia | 199 |
Sickle Cell Anemia, a Molecular Disease (1949) | ||
31 | Protection against Malaria in Sickle Cell Trait | 205 |
Protection Afforded by Sickle-cell Trait against Subtertian Malarial Infection (1954) | ||
32 | Gene Mutations in Human Hemoglobin | 212 |
Gene Mutations in Human Haemoglobin: The Chemical Difference between Normal and Sickle Cell Haemoglobin (1957) | ||
33 | A Structure for DNA | 215 |
Molecular Structure of Nucleic Acids. A Structure for Deoxyribose Nucleic Acid (1953) | ||
34 | Cytoplasmic Inheritance and Leber's Disease | 221 |
A Probable Case of Cytoplasmic Inheritance in Man: A Critique of Leber's Disease (1936) | ||
35 | Gene Action in the X-chromosome | 225 |
Gene Action in the X-chromosome of the Mouse (Mus musculus L.) (1961) | ||
36 | Anticipation in Myotonic Dystrophy I | 228 |
The Problem of Anticipation in Pedigrees of Dystrophia Myotonica (1948) | ||
37 | Anticipation in Myotonic Dystrophy II | 228 |
Anticipation in Myotonic Dystrophy: Fact or Fiction? (1989) | ||
38 | Maternally and Paternally Derived Chromosome Regions | 244 |
Differential Activity of Maternally and Paternally Derived Chromosome Regions in Mice (1985) | ||
39 | Retinoblastoma | 248 |
Mutation and Cancer: Statistical Study of Retinoblastoma (1971) | ||
40 | Phenylalanine Intake and Phenylketonuria | 257 |
Influence of Phenylalanine Intake on Phenylketonuria (1953) | ||
41 | Pathogenesis of Erythroblastosis Fetalis | 260 |
The Role of Iso-immunization in the Pathogenesis of Erythroblastosis Fetalis (1941) | ||
42 | Prevention of Rh Hemolytic Disease | 268 |
Experimental Studies on the Prevention of Rh Haemolytic Disease (1961) | ||
43 | Antenatal Diagnosis of Sickle Cell Anemia | 275 |
Antenatal Diagnosis of Sickle-cell Anaemia by D.N.A. Analysis of Amniotic-fluid Cells (1978) | ||
44 | Carrier Screening for Tay-Sachs Disease | 279 |
Heterozygote Detection in Tay-Sachs Disease: A Prototype Community Screening Program for the Prevention of Recessive Genetic Disorders (1972) | ||
45 | Prevention of Neural-tube Defects | |
Possible Prevention of Neural-tube Defects by Periconceptional Vitamin Supplementation (1980) | 285 | |
46 | Radiation and the Sex Ratio | 291 |
Radiation and the Sex Ratio in Man. Sex Ratio among Children of Survivors of Atomic Bombings Suggests Induced Sex-linked Lethal Mutations (1958) | ||
47 | The Geneticists Manifesto | 298 |
Men and Mice at Edinburgh (1939) | ||
Index | 303 |
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