Journal of Medical Genetics - 1973

101 articles | Last updated: 2025-12-03 14:12:57
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T A T A T A T A
International Journal of Epidemiology
Auto-Immunity and Auto-Immune Disease
The skin in genetically-controlled metabolic disorders.
The Paris nomenclature.
Three Further Cases of Triploidy in Man Surviving to Birth
Origin of 48,XXXY: The Evidence of the Xg Blood Groups
Favism: Current Problems and Investigations
Antenatal Diagnosis of Genetic Disease
Letter: Multiple congenital defects associated with an abnormal unclassifiable karyotype.
Gender Differences: Their Ontogeny and Significance
Sibship (21q21q) Translocation Down's Syndrome with Maternal Transmission
The Genetic Variability of Thalassaemia. A Family Study
Letter: The Crouzon syndrome.
Oogenesis
Coefficients of Biological Distance
Observations Suggesting Allelism of the Achondroplasia and Hypochondroplasia Genes
Fetal and embryonic haemoglobins.
Three Generations and Six Family Members with a t(13q15q) Chromosome
Correspondence
Early Prenatal Diagnosis of Hurler's Syndrome with Termination of Pregnancy and Confirmatory Findings on the Fetus
Presence of Brightly Fluorescent Material in Testes of XX Males
Male Pseudohermaphroditism in a Child with Down's Syndrome
The Child with Down's Syndrome (Mongolism)
Thanatophoric Dwarfism
The Scheinfeld Center for Human Genetics in the Social Sciences
Hereditary Brachydactyly Associated with Hypertension
Letter: Familial microtia and meatal atresia.
Lip Pits and Congenital Absence of Second Premolars: Varied Expression of the Lip Pits Syndrome
Hermaphroditism, Genital Anomalies and Related Endocrine Disorders, 2nd ed
Genetic Studies in Mental Subnormality. Part 1: Familial Idiopathic Severe Subnormality: The Question of a Contribution by X-linked Genes
Basic Immunogenetics
The Basal Cell Naevus Syndrome: Report of a Family with Anosmia and a Case of Hypogonadotrophic Hypopituitarism
Phenocopies.
Human Dicentric Y Chromosomes: Case Report and Review of the Literature
Deletion from the Long Arm of Chromosome 4 (46,XX,4q--) Associated with Congenital Anomalies
Chromosome Nomenclature
Tissue Culture Techniques as an Aid to Prenatal Diagnosis and Genetic Counselling in Homocystinuria
Patients' subjective interpretation of risks offered in genetic counselling.
Modes of Inheritance of Errors of Refraction
Down's Syndrome with 47,XX,+21/47,XX,+mar Mosaicism
Man, Mind, and Heredity
An Experimental Approach to the Understanding and Treatment of Hereditary Syndromes with Congenital Deafness and Hypothyroidism
Preliminary Communication: Familial Accumulation of Carriers of Au Antigen
Familial Occurrence of Ivemark Syndrome with Splenic Hypoplasia and Asplenia in Sibs
Organic Acidurias
Myoglobin in Primary Muscular Disease: I. Duchenne Muscular Dystrophy: and: II. Muscular Dystrophy of Distal Type
Genetic Association in Myocardial Infarction: Ethnicity; ABO, Rh, Lea, Xga Blood Groups; G6PD Deficiency; and Abnormal Haemoglobins
Cryptophthalmos in Two Families from Bahia, Brazil
Genetic Factors in `Schizophrenia'
Human Embryology and Genetics
Rh Prevention: A Report and Analysis of a National Programme
Possible Linkage between Xg and the Locus for a Gene causing Mental Retardation with or without Hydrocephalus
Segregation Ratios in Alport's Syndrome
Identification of Group `E' Chromosome Abnormalities in Human Cells
A 48,XYYY Male: A Somatic and Psychiatric Description
Monozygotic Twins with Ring Chromosome 22
Correspondence
Dermatoglyphics: A Diagnostic Aid?
Trisomy 9 Mosaicism with Multiple Congenital Anomalies
Partial Trisomy of the Long Arm of Chromosome No. 7
Mobius Syndrome with Poland's Anomaly
The development of the epidermal ridges.
Satellite DNA.
Trisomy 13 in Two Infants with Cyclops
Progress in Pediatric Radiology. Volume 4. Intrinsic Diseases of Bones.
Hirschsprung's Disease and Congenital Deafness
Segregation Analysis of A Large t(21q22q) Family
Antenatal Diagnosis of Patau's Syndrome (Trisomy 13) including a Detailed Pathological Study of the Fetus
An Inherited Small Extra Chromosome: A Mother with 46,XX,t(17;22) (p1;q1) and a Son with 47,XY,+der(22) mat
Heritable Disorders in Orthopaedic Practice
The Hunting Peoples
Phenotypes of Galactosaemia in Infants Screened at Birth
Electromyographic Studies in Parents of Children with Spinal Muscular Atrophy
An Autosomal Recessive Form of Craniofacial Dysostosis (The Crouzon Syndrome)
The Assessment of Population Affinities in Man
Results and Pitfalls in Prenatal Cytogenetic Diagnosis
Photographic techniques for recording chromosome banding patterns.
A Family with Heritable Electrocardiographic QT-prolongation
Three Translocations Involving C- or G-group Chromosomes
A `New' Saliva Substance, Probably Inherited, and Serologically Independent of ABH, Lewis, and Sda Blood Group Substances
Parental Dermatoglyphics in Down's Syndrome. A Ten-year Study
D/D Translocations in Males Examined for Military Service
A Child with Multiple Congenital Malformations and a 46,XX,t(Bq+;Dq-)/45,XX,-B, -D, + der(B),t(Bq+;Dq-) Karyotype
Correspondence: Alport's syndrome.
Advances in Experimental Medicine and Biology
Birth Defects: Original Article Series, 8
Amniotic Fluid Cell Cultures
Prenatal Diagnosis of an Inherited Translocation Between Chromosomes No. 9 and 18
A Case of Trisomy 9
Familial Bird-headed Dwarfism (Seckel's Syndrome)
Spina Bifida and Anencephalus in Greater London
The Gene Frequency of Acute Werdnig-Hoffmann Disease (SMA Type 1). A Total Population Survey in North-East England
Agenesis of the Corpus Callosum in Two Sisters
Pachytene Analysis in a Human Reciprocal (10;11) Translocation
The XY Gonadal Agenesis Syndrome
A New Case of Trisomy for the Short Arm of No. 9 Chromosome
Developmental Abnormalities Associated with a Ring Chromosome 6
A Dictionary of Genetics. 2nd edition
The Relation of Sex of Affected Parent to the Age at Onset of Huntington's Disease
Fluorescence and Autoradiographic Studies in Patients with Turner's Syndrome and 46,XXp-- and 46,XXq-- Karyotypes
Segregating Reciprocal (4;21) (q21;q21) Translocation with Proposita Trisomic for Parts of 4q and 21