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English
Genetics. Mendelian puzzles
scientific article published in Science
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
22362999
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22362999%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 January 2020
title
Genetics. Mendelian puzzles
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
22362999
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22362999%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 January 2020
author
Ashish Kapoor
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
22362999
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22362999%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 January 2020
author name string
Aravinda Chakravarti
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
22362999
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22362999%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 January 2020
language of work or name
English
0 references
publication date
1 February 2012
1 reference
stated in
Europe PubMed Central
PubMed publication ID
22362999
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22362999%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 January 2020
published in
Science
1 reference
stated in
Europe PubMed Central
PubMed publication ID
22362999
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22362999%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 January 2020
volume
335
1 reference
stated in
Europe PubMed Central
PubMed publication ID
22362999
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22362999%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 January 2020
issue
6071
1 reference
stated in
Europe PubMed Central
PubMed publication ID
22362999
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22362999%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 January 2020
page(s)
930-931
1 reference
stated in
Europe PubMed Central
PubMed publication ID
22362999
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22362999%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 January 2020
cites work
A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1126%2FSCIENCE.1219301
retrieved
21 January 2018
Exome sequencing identifies the cause of a mendelian disorder
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1126%2FSCIENCE.1219301
retrieved
21 January 2018
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1126%2FSCIENCE.1219301
retrieved
21 January 2018
Initial impact of the sequencing of the human genome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1126%2FSCIENCE.1219301
retrieved
21 January 2018
Transcriptional Regulatory Elements in the Human Genome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1126%2FSCIENCE.1219301
retrieved
21 January 2018
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1126%2FSCIENCE.1219301
retrieved
21 January 2018
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1126%2FSCIENCE.1219301
retrieved
21 January 2018
Allelic Variation in Human Gene Expression
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1126%2FSCIENCE.1219301
retrieved
21 January 2018
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1126%2FSCIENCE.1219301
retrieved
21 January 2018
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1126%2FSCIENCE.1219301
retrieved
21 January 2018
Identifiers
DOI
10.1126/SCIENCE.1219301
1 reference
stated in
Europe PubMed Central
PubMed publication ID
22362999
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22362999%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 January 2020
JSTOR article ID
41508108
0 references
PubMed publication ID
22362999
1 reference
stated in
Europe PubMed Central
PubMed publication ID
22362999
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22362999%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 January 2020
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