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HEREDITARY / CONGENITAL DISEASES OR DISORDERS

Exhibiting 206 entries found in the GMN corpus.

YearTitle & TagsAuthor(s)
1882 CE​–1883 CE"A study of the malformations, variations, and anomalies of the circulatory apparatus in man," with a brief consideration of some of the principles governing their production.
1886 CEA case of haemophilia: pedigree through five generations.
1974 CEA centennial bibliography of Huntington’s chorea, 1872-1972.
1938 CEA clinical and genetic study of 1,280 cases of mental defect.
1911 CEA first study of inheritance of epilepsy.
1986 CEA human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma.
1921 CEA new principle in the surgical treatment of “congenital cleft palate”, and its mechanical counterpart.
1951 CEA new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair with congenital deafness.
1993 CEA novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.
1860 CEA practical treatise on the aetiology, pathology, and treatment of the congenital malformations of the rectum and anus.
1963 CEA simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants.
1994 CEA strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
1901 CEA study of congenital sarcoma of the liver and suprarenal. With report of a case.
1907 CE​–1908 CEA study of heredity in relation to the development of tumours in mice.
1698 CEA treatise of the asthma.
1784 CEA treatise on the diseases of children.
1814 CEA treatise on the supposed hereditary properties of diseases, containing remarks on the unfounded terrors and ill-judged cautions consequent on such erroneous opinions; with notes, illustrative of the subject, particularly in madness and scrofula.
1791 CEAbbildungen und Beschreibungen einiger Misgeburten.
1822 CE​–1823 CEAccount of a singular variety of urine, which turned black soon after being discharged; with some particulars respecting its chemical properties.
1952 CEAgammaglobulinemia.
1803 CEAn account of an haemorrhagic disposition existing in certain families.
1777 CEAn account of persons who could not distinguish colours.
1777 CEAn account of the diseases most incident to children, from their birth till the age of puberty.
1717 CEAn account of the dissection of a child.
1731 CEAn extract from the minutes of the Royal Society, March 16, 1731, containing an uncommon case of a distempered skin.
1938 CEAn operation for the cure of congenital absence of the vagina.
1946 CEAnastomosis of the aorta to a pulmonary artery. Certain types in congenital heart disease.
1935 CEAnatomia della lussazione congenita dell'anca.
1927 CEAnemia in children, with splenomegaly and peculiar changes in the bones.
1936 CEAtlas of congenital cardiac disease.
1945 CEAtrial septal defect: Study of hemodynamics by the technique of right heart catheterization.
1928 CEBeiträge zur Lehre von den angeborenen Herzfehlern.
1928 CECancer and heredity.
1788 CECase of a scirrhus in the pylorus of an infant.
1900 CECases with symmetrical congenital notches in the outer part of each lid and defective development of the malar bones.
1913 CEChirurgie des malformations congénitales ou acquises du coeur.
1941 CEChondrodystrophic dwarfs in Denmark (supplemented with investigations from Sweden and Norway) with special reference to the inheritance of chondrodystrophy.
1952 CEChristmas disease, a condition previously mistaken for haemophilia.
1891 CEColour-blindness and colour-perception.
1943 CECongenital atresia of the esophagus with tracheo-esophageal fistula. Extrapleural ligation of fistula and end-to-end anastomosis of esophageal segments.
1927 CECongenital cardiac disease by Maude Abbott. IN: Modern medicine: Its theory and practice, edited by Sir William Osler, assisted by Thomas McCrae. 3rd ed., 4, 612-812.
1941 CECongenital cataract following German measles in the mother.
1918 CECongenital clefts of the face.
1943 CECongenital defects in infants following infectious diseases during pregnancy.
1950 CECongenital heart disease.
1947 CECongenital malformations of the heart.
1917 CECongenital word-blindness.
1863 CEContractur des Metatarsus.
1888 CEContribution à l’anatomie pathologique de la maladie bleu (cyanose cardiaque).
1880 CEContribution à l’étude de l’idiotàie.