About: Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1

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About: Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1 Goto Sponge NotDistinct Permalink

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Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в серпні 2003 (uk) im August 2003 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q56354544-5BA309C8-59F0-4D3A-BB25-8BC13BF40A00
publication date	2003-08-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q56354544-D02D6AB4-CA7D-4F19-AF67-B2F3EF03A70D
language of work or name	English
author name string	wds:Q56354544-1A389A1C-28CE-4CA3-83D8-B3F2F8D39902 wds:Q56354544-627935F6-AB36-465C-9914-963D9034FBE8 wds:Q56354544-D31D559C-DF5D-4265-93DF-03A156CB687D
author name string	Janet Cowan Patricia G Wheeler Natasha Shur
rdfs:label	Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1 (en) Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1 (nl)
skos:prefLabel	Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1 (en) Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1 (nl)
name	Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1 (en) Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1 (nl)
title	wds:Q56354544-7FE85A62-47FD-44C1-BACF-7A28BE6362E9
title	Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1 (en)
page(s)	wds:Q56354544-026C4776-D1BB-4379-9C39-9A2C0A3054C5
page(s)	542-6
instance of	wds:Q56354544-7839BC4C-3886-46B1-879A-67A837A7080B
instance of	scholarly article
main subject	wds:Q56354544-97CD3CF4-AE14-445A-8C02-4D3E596D3F0E
main subject	craniosynostosis
PubMed ID	wds:Q56354544-38AA0F5C-DE8C-4F9F-99B3-32A926672D86
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/12884436
PubMed ID	12884436
published in	wds:Q56354544-81A0CCA7-0195-4180-BAD5-DBA761D59760
published in	American Journal of Medical Genetics
issue	wds:Q56354544-9739C6AC-EF47-41C0-B256-47FA729F3B69
volume	wds:Q56354544-1759AE6F-EFE2-49E4-8AC7-F54DD0FF6F7D
issue	4
volume	120A
DOI	wds:Q56354544-E9AB85EE-5B68-4699-99DC-651D200D4EDC
DOI	http://dx.doi.org/10.1002/AJMG.A.20093
DOI	10.1002/AJMG.A.20093
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q56354544
is cites work of	The clinical spectrum of complete FBN1 allele deletions Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2) Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis. Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications TCF12 microdeletion in a 72-year-old woman with intellectual disability. De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case First reported case of interstitial 15 q15.3-q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur
is cites work of	wds:Q34705212-D49B55A4-E98D-49E2-ACF2-FF9EE9F6B72C wds:Q36069260-5A5776A5-764D-4DD7-BAE3-C911B5A54858 wds:Q25256135-F5189BFC-4D41-4B9F-8DE0-8B3244EC790E wds:Q38032764-1F840169-DD28-4ADB-8500-99342D2BA514 wds:Q80305336-B52682AA-A3C2-4009-BF09-EC531B5F9878 wds:Q37105557-CC1DC8FB-AB13-46D5-9038-CB98F9055BA4 wds:Q54911471-4C27F3A1-BB05-4BD2-9A38-2EE6AD23152D wds:Q56321921-F09FDECE-7CF8-4C44-8506-D5469505740F

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