http://rdf.ncbi.nlm.nih.gov/pubchem/reference/16218610

Outgoing Links

Predicate Object
contentType Case Reports|Journal Article
endingPage 2560
issn 1552-4833
1552-4825
issueIdentifier 12
pageRange 2554-2560
publicationName American journal of medical genetics. Part A
startingPage 2554
bibliographicCitation Rodan LH, Anyane‐Yeboa K, Chong K, Klein Wassink‐Ruiter JS, Wilson A, Smith L, Kothare SV, Rajabi F, Blaser S, Ni M, DeBerardinis RJ, Poduri A, Berry GT. Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. American J of Med Genetics Pt A. 2018 Nov 26;176(12):2554–60. doi: 10.1002/ajmg.a.60677.
creator http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_7721d1c4ceb7232450375ed7fe1e6533
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_9cd94cf88551cf324c7ef2613d055a72
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_abe942b200707241ddfc24e108ad84c4
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_d47cb9d31f417f1fe5f6c4db3cc5d8b0
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_b75a0051362dc1ac736a1c88496f5b6c
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_9166a4334dff05c8546a54b6dbaac5e3
http://rdf.ncbi.nlm.nih.gov/pubchem/author/ORCID_0000-0002-2392-6688
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_ec559995d8bd68aaab2a5c9fe5f52ece
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_c61a4d370672138e5c0d6f9458277e57
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_9b87dd874d2bf259437ce05dc05f8930
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_b1c30204c5d3727994f80d6790e48daa
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_01cabec1eb7f613ee8d5229f8e555cab
http://rdf.ncbi.nlm.nih.gov/pubchem/author/MD5_05f86610de6fe77bbc12c83b2fff92e0
date 2018-11-26^^<http://www.w3.org/2001/XMLSchema#date>
identifier https://doi.org/10.1002/ajmg.a.60677
https://pubmed.ncbi.nlm.nih.gov/30475435
isPartOf http://rdf.ncbi.nlm.nih.gov/pubchem/journal/32200
https://portal.issn.org/resource/ISSN/1552-4833
https://portal.issn.org/resource/ISSN/1552-4825
language English
source https://www.crossref.org/
https://pubmed.ncbi.nlm.nih.gov/
title Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
discusses http://id.nlm.nih.gov/mesh/M0403944
http://id.nlm.nih.gov/mesh/M000647338
http://id.nlm.nih.gov/mesh/M0091877
hasPrimarySubjectTerm http://id.nlm.nih.gov/mesh/D065886Q000235
http://id.nlm.nih.gov/mesh/D029382Q000235
http://id.nlm.nih.gov/mesh/D057215Q000235
http://id.nlm.nih.gov/mesh/D000505Q000235
http://id.nlm.nih.gov/mesh/D033681Q000235
http://id.nlm.nih.gov/mesh/D058627Q000235
http://id.nlm.nih.gov/mesh/D000073659
hasSubjectTerm http://id.nlm.nih.gov/mesh/D020641
http://id.nlm.nih.gov/mesh/D000293
http://id.nlm.nih.gov/mesh/D058627Q000175
http://id.nlm.nih.gov/mesh/D065886Q000175
http://id.nlm.nih.gov/mesh/D004569
http://id.nlm.nih.gov/mesh/D009154
http://id.nlm.nih.gov/mesh/D005838
http://id.nlm.nih.gov/mesh/D000505Q000175
http://id.nlm.nih.gov/mesh/D006801
http://id.nlm.nih.gov/mesh/D002648
http://id.nlm.nih.gov/mesh/D019066
http://id.nlm.nih.gov/mesh/D059906Q000379
http://id.nlm.nih.gov/mesh/D057215Q000175
http://id.nlm.nih.gov/mesh/D001921Q000000981
http://id.nlm.nih.gov/mesh/D001921Q000002
http://id.nlm.nih.gov/mesh/D005260
http://id.nlm.nih.gov/mesh/D010641
http://id.nlm.nih.gov/mesh/D000483
http://id.nlm.nih.gov/mesh/D009483
http://id.nlm.nih.gov/mesh/D008297
discussesAsDerivedByTextMining http://rdf.ncbi.nlm.nih.gov/pubchem/compound/CID6262
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID11304
http://rdf.ncbi.nlm.nih.gov/pubchem/compound/CID1045
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID7386
http://rdf.ncbi.nlm.nih.gov/pubchem/compound/CID122356
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID8607
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID6847
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID11494
http://rdf.ncbi.nlm.nih.gov/pubchem/gene/MD5_49057a93f3a6cfecbd023869e1f33905
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID11232
http://rdf.ncbi.nlm.nih.gov/pubchem/disease/DZID11192

Incoming Links

Predicate Subject
isDiscussedBy http://rdf.ncbi.nlm.nih.gov/pubchem/protein/ACCP11926

Showing number of triples: 1 to 74 of 74.