The William Allan Memorial Award Lecture: Genetic nosology: three approaches (Q35202678)

7 August 2017

title

The William Allan Memorial Award Lecture: Genetic nosology: three approaches (English)

1 reference

7 August 2017

McKusick VA

1

1 reference

7 August 2017

V. A. McKusick

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A418674

30 June 2022

language of work or name

English

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publication date

1 March 1978

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/418674/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A418674

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/418674/pdf/?tool=EBI

30 June 2022

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A418674

https://europepmc.org/articles/PMC1685553

30 June 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A418674

https://europepmc.org/articles/PMC1685553?pdf=render

30 June 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A418674

American Journal of Human Genetics

30 June 2022

published in

1 reference

7 August 2017

volume

30

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7 August 2017

issue

2

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7 August 2017

page(s)

105-122

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Linkage Between the X Chromosome Loci for Glucose-6-Phosphate Dehydrogenase Electrophoretic Variation and Hemophilia A.

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

INBORN LYSOSOMAL DISEASES.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

HYDROMETROCOLPOS AS A SIMPLY INHERITED MALFORMATION.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

Recessive inheritance of a congenital malformation syndrome: unilateral absence deformity of leg and congenital cataracts

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

Probable assignment of the Duffy blood group locus to chromosome 1 in man

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

Human-mouse hybrid cell lines containing partial complements of human chromosomes and functioning human genes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

Controversy in human genetics: founder effect in Tay-Sachs disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

A community of human malformation syndromes involving the müllerian ducts, distal extremities, urinary tract, and ears

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

Large deviations in the distribution of rare genes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

The Finnish population structure A genetic and genealogical study

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

Hereditary diseases in Finland; rare flora in rare soul

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

Phenotypic diversity of human diseases resulting from allelic series

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

Assignment of Nucleoside Phosphorylase to D-14 and Localization of X-linked Loci in Man by Somatic Cell Genetics

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

The status of the gene map of the human chromosomes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

Molecular genetics of GM1 beta-galactosidase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

Nature of the mutation in adult beta-galactosidase deficient patients

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

The community of human malformation syndromes that shares ectodermal dysplasia and deformities of the hands and feet

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

Genetical linkage between the loci for glucose-6-phosphate dehydrogenase deficiency and colour-blindness in American Negroes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

Hurler's syndrome: demonstration of an inherited disorder of connective tissue in cell culture

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685553

Growth of Bacteria Labelled with Heavy Isotopes for the Isolation of Nucleic Acids

26 September 2018

1 reference

12 December 2020

The expanding knowledge of the genome of the mouse

1 reference

12 December 2020

A search for linkage between the Lutheran blood group and other hereditary characters

1 reference

12 December 2020

A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis

1 reference

12 December 2020

Tay-Sachs disease: genetic drift among the Ashkenazim Jews

1 reference

12 December 2020

The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability

1 reference

12 December 2020

Angiokeratoma corporis diffusum with alpha-L-fucosidase deficiency

1 reference

12 December 2020

Editorial notes: Molecular defects in collagen

1 reference

12 December 2020

Identifiers

PMC publication ID

1685553

1 reference

7 August 2017

1 reference