About: Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1 Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

scientific article published on 21 November 2015

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) article scientifique publié en 2015 (fr) наукова стаття, опублікована в листопаді 2015 (uk) scientific article published on 21 November 2015 (en) im November 2015 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en payares de 2015 (ast)
publication date	wds:Q86757335-A6449CF7-834F-47C7-9332-05C2A7FE0567
publication date	2015-11-21 00:00:00Z (xsd:dateTime)
author name string	wds:Q86757335-2DD5D9EC-E252-47FF-8109-FFCE149A33A2 wds:Q86757335-3310AABD-0A48-42A3-A0A7-550C0C0D77BC wds:Q86757335-42585FCF-489C-4F0F-88D6-2CF674E98066 wds:Q86757335-87BA38C7-B8DA-4F28-80D4-918046AC52C0 wds:Q86757335-8CE717B5-3FC9-4CCE-8253-77329A32C481 wds:Q86757335-C4845EA6-E9AA-492F-8869-BEE8D523CE34 wds:Q86757335-F87F04DE-8E3C-44E3-843A-A149DEB5B9E9
author name string	Naomichi Matsumoto Noriko Miyake Deanna True Mathew Wallis Chirag Patel Trent Burgess Peter Borzi
rdfs:label	Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1 (en) Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1 (nl)
skos:prefLabel	Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1 (en) Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1 (nl)
name	Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1 (en) Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1 (nl)
author	wds:Q86757335-102891A3-E97F-40C0-920A-BCE382AD3BA2
author	Yoshinori Tsurusaki
title	wds:Q86757335-20A67AA3-81FC-49C5-9342-209B1FB9F581
title	Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1 (en)
page(s)	wds:Q86757335-1CF41F55-19A8-4EA4-B6AE-0B33C8A85218
page(s)	717-724
instance of	wds:Q86757335-7D799A82-8AD7-4FB7-80E3-A8077B5046BE
instance of	scholarly article
main subject	wds:Q86757335-7F38F523-1776-4849-A3CE-4AC002A1EF9E
main subject	hand-foot-genital syndrome
PubMed ID	wds:Q86757335-3E238107-5473-40C5-BA82-C3DA0477978B
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/26590955
PubMed ID	26590955
published in	wds:Q86757335-85502D88-86C6-43C4-900C-1AF8F9EBE9DC
published in	American Journal of Medical Genetics
issue	wds:Q86757335-AEEF786D-2E10-4197-B902-6B20ACBD2EBC
volume	wds:Q86757335-ADCBF6FD-5518-4765-8F48-EF2A75174EFA
issue	3
volume	170
DOI	wds:Q86757335-05BC8AF9-B6D8-4E77-85F4-F427F0D0AF82
DOI	http://dx.doi.org/10.1002/AJMG.A.37478
DOI	10.1002/AJMG.A.37478
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q86757335
is cites work of	Adding Insult to Injury, Complexity to Intricacy. A Clinician's perspective on clinical exome sequencing. 7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype A missense mutation of HOXA13 underlies hand-foot-genital syndrome in a Chinese family The tale of two genes: from next-generation sequencing to phenotype Hand-foot-genital syndrome - analysis of two cases.
is cites work of	wds:Q50211806-2D18CB9C-8012-4446-88BB-2FA6CF3B326A wds:Q46299403-07DAD7DB-90A2-4AA0-B04D-D8C26B60D13A wds:Q89072332-4F93CFD9-E530-4DD0-84FE-F0EBE3AD4011 wds:Q92858606-573F5293-A5D2-4026-B0E0-96F9497D5F7B wds:Q55368965-0543E74E-5A28-4131-AF74-BDB3994EA77A wds:Q38820327-ABCAC782-B5FC-4998-BA3B-FA0DD9973A69

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 171 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software