Gaucher's disease: genetic counselling and population screening. (Q41719209)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497864%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

review article

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title

Gaucher's disease: genetic counselling and population screening (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497864%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

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1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497864%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

A Zimran

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497864%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

publication date

1 December 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497864%20AND%20SRC:MED&resulttype=core&format=json

Best Practice and Research: Clinical Haematology

10 November 2019

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497864%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497864%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497864%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

779-792

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497864%20AND%20SRC:MED&resulttype=core&format=json

Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype

10 November 2019

cites work

1 reference

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7 January 2021

Cytogenetic analysis of chorionic villi for prenatal diagnosis: an ACC collaborative study of U.K. data. Association of Clinical Cytogeneticists Working Party on Chorionic Villi in Prenatal Diagnosis

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7 January 2021

First trimester diagnosis of Gaucher disease in a fetus with trisomy 21

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7 January 2021

Glucocerebrosidase (Gaucher disease).

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7 January 2021

Five new Gaucher disease mutations

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7 January 2021

Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel.

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7 January 2021

Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood

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7 January 2021

Preimplantation diagnosis

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7 January 2021

Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes

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7 January 2021

Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis

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Preimplantation diagnosis of inherited disease by embryo biopsy: an update of the world figures

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7 January 2021

Genotype/phenotype correlations in Gaucher's disease

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7 January 2021

Cytogenetic analysis of 2928 CVS samples and 1075 amniocenteses from randomized studies

1 reference

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7 January 2021

Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C.

1 reference

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7 January 2021

Canadian multicenter randomized clinical trial of chorion villus sampling and amniocentesis. chromosome mosaicism in CVS and amniocentesis samples

1 reference

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7 January 2021

Prediction of severity of Gaucher's disease by identification of mutations at DNA level

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980040-6

7 January 2021

Prenatal molecular diagnosis of Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2897%2980040-6

7 January 2021

10.1016/S0950-3536(97)80040-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497864%20AND%20SRC:MED&resulttype=core&format=json

release_ie4drn2unvbkdjmjxmq6pwmufu

10 November 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ie4drn2unvbkdjmjxmq6pwmufu

24 November 2022

mapped directly with Wikidata item

1 reference