(Q33587779)

English

Monogenic disorders

scientific article published on October 1, 1977

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Monogenic disorders (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

1 reference

10.1136/JMG.14.5.316

https://api.crossref.org/works/10.1136/JMG.14.5.316

14 July 2023

author name string

C. O. Carter

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A563465

12 July 2022

language of work or name

0 references

publication date

1 October 1977

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

number of pages

5

1 reference

based on heuristic

inferred from page(s)

full work available at URL

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/563465/?tool=EBI

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A563465

12 July 2022

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/563465/pdf/?tool=EBI

Portable Document Format

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A563465

12 July 2022

http://jmg.bmjjournals.com/cgi/content/abstract/14/5/316

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A563465

12 July 2022

https://europepmc.org/articles/PMC1013611

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A563465

12 July 2022

https://europepmc.org/articles/PMC1013611?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A563465

12 July 2022

https://syndication.highwire.org/content/doi/10.1136/jmg.14.5.316

1 reference

10.1136/JMG.14.5.316

https://api.crossref.org/works/10.1136/JMG.14.5.316

14 July 2023

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

14

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

316-320

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Osteopetrosis: review of dominant cases and frequency in a Brazilian State

1 reference

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Genetics of spherocytosis

1 reference

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A study of retinoblastoma in Ohio

1 reference

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21 June 2018

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

1 reference

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21 June 2018

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

1 reference

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21 June 2018

Incidence of fibrocystic disease in Wessex

1 reference

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21 June 2018

Genetic factors in otosclerosis

1 reference

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21 June 2018

Polycystic disease of kidney and liver presenting in childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013611

21 June 2018

Chronic generalized spinal muscular atrophy of infancy and childhood. Arrested Werdnig-Hoffman disease

1 reference

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21 June 2018

Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013611

21 June 2018

The amount of hereditary disease in human populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013611

21 June 2018

Familial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013611

21 June 2018

Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013611

21 June 2018

The ages of onset and at death in dystrophia myotonica

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013611

21 June 2018

Cystic fibrosis detection by means of a test-strip

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013611

21 June 2018

The inheritance of hyperipoproteinaemia with xanthomatosis:A study of 132 kindreds

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013611

21 June 2018

Investigations on Huntington's disease in the Canadian Prairies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013611

21 June 2018

Hereditary deaf mutism, with particular reference to Northern Ireland

1 reference

https://pubmed.ncbi.nlm.nih.gov/563465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A note on deaf mutism

1 reference

https://pubmed.ncbi.nlm.nih.gov/563465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/563465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/563465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Achondroplasia and thanatophoric dwarfism in the newborn

1 reference

https://pubmed.ncbi.nlm.nih.gov/563465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

On the distributions of frequencies of mutation to genes determining harmful traits in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/563465

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England

24

1 reference

10.1136/JMG.14.5.316

https://api.crossref.org/works/10.1136/JMG.14.5.316

14 July 2023

Osteogenesis Imperfecta in Sweden: Clinical, Genetic, Epidemiological and Socio-Medical Aspects

31

1 reference

10.1136/JMG.14.5.316

https://api.crossref.org/works/10.1136/JMG.14.5.316

14 July 2023

X-linked mental retardation without physical abnormality (Renpenning's syndrome) in sibs in an institution.

38

1 reference

10.1136/JMG.14.5.316

https://api.crossref.org/works/10.1136/JMG.14.5.316

14 July 2023

Identifiers

10.1136/JMG.14.5.316

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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