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Literature DB >> 563465

Monogenic disorders.

C O Carter.

Abstract

Mesh：

Year: 1977 PMID： 563465 PMCID： PMC1013611 DOI： 10.1136/jmg.14.5.316

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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23 in total

1. A note on deaf mutism.

Authors: C S CHUNG; O W ROBINSON; N E MORTON
Journal: Ann Hum Genet Date: 1959-12 Impact factor: 1.670

2. A study of retinoblastoma in Ohio.

Authors: M T MACKLIN
Journal: Am J Hum Genet Date: 1960-03 Impact factor: 11.025

3. Marfan's syndrome in Northern Ireland; an account of thirteen families.

Authors: M A LYNAS
Journal: Ann Hum Genet Date: 1958-07 Impact factor: 1.670

4. A genetic study of multiple polyposis of the colon with an appendix deriving a method of estimating relative fitness.

Authors: T E REED; J V NEEL
Journal: Am J Hum Genet Date: 1955-09 Impact factor: 11.025

5. Hereditary deaf mutism, with particular reference to Northern Ireland.

Authors: A C STEVENSON; E A CHEESEMAN
Journal: Ann Hum Genet Date: 1956-02 Impact factor: 1.670

6. Osteopetrosis: review of dominant cases and frequency in a Brazilian state.

Authors: F M SALZANO
Journal: Acta Genet Med Gemellol (Roma) Date: 1961-07

7. Genetics of spherocytosis.

Authors: N E MORTON; A A MACKINNEY; N KOSOWER; R F SCHILLING; M P GRAY
Journal: Am J Hum Genet Date: 1962-06 Impact factor: 11.025

8. Biosocial aspects of life in Britain. Nature and distribution of genetic abnormalities.

Authors: C O Carter
Journal: J Biosoc Sci Date: 1973-04

9. Polycystic disease of kidney and liver presenting in childhood.

Authors: H Blyth; B G Ockenden
Journal: J Med Genet Date: 1971-09 Impact factor: 6.318

10. The syndrome of pits of the lower lip and cleft lip and/or palate. Genetic considerations.

Authors: J Cervenka; R J Gorlin; V E Anderson
Journal: Am J Hum Genet Date: 1967-05 Impact factor: 11.025

29 in total

1. A report on genetic registers. Based on the report of the Clinical Genetics Society Working Party.

Authors: A E Emery; C Brough; M Crawfurd; P Harper; R Harris; G Oakshott
Journal: J Med Genet Date: 1978-12 Impact factor: 6.318

Review 2. Rare-disease genetics in the era of next-generation sequencing: discovery to translation.

Authors: Kym M Boycott; Megan R Vanstone; Dennis E Bulman; Alex E MacKenzie
Journal: Nat Rev Genet Date: 2013-09-03 Impact factor: 53.242

3. Understanding rare disease pathogenesis: a grand challenge for model organisms.

Authors: Philip Hieter; Kym M Boycott
Journal: Genetics Date: 2014-10 Impact factor: 4.562

4. Demand for DNA probe testing in three genetic centres in Britain (August 1986 to July 1987).

Authors: R J Rona; A V Swan; R Beech; L Prentice; A Reynolds; O Wilson; G Mole; P Vadera
Journal: J Med Genet Date: 1989-04 Impact factor: 6.318

5. The estimation of risks from the induction of recessive mutations after exposure to ionising radiation.

Authors: A G Searle; J H Edwards
Journal: J Med Genet Date: 1986-06 Impact factor: 6.318

6. Cystic fibrosis in Northern Ireland.

Authors: G B Nevin; N C Nevin; A O Redmond
Journal: J Med Genet Date: 1979-04 Impact factor: 6.318

7. Distribution of Gd- alleles in some ethnic groups of the USSR.

Authors: X D Krasnopolskaya; T L Shatskaya
Journal: Hum Genet Date: 1987-03 Impact factor: 4.132

8. Modelled epidemiological data for selected congenital disorders in South Africa.

Authors: Helen L Malherbe; Colleen Aldous; Arnold L Christianson; Matthew W Darlison; Bernadette Modell
Journal: J Community Genet Date: 2021-03-05

9. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy.

Authors: J Pearn
Journal: J Med Genet Date: 1978-12 Impact factor: 6.318

10. Hereditary damage.

Authors: A G Searle
Journal: Radiat Environ Biophys Date: 1979 Impact factor: 1.925