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Array CGH in patients with developmental delay or intellectual disability : are there phenotypic clues to pathogenic copy number variants?
Journal
Clinical Genetics
30
Author
Shoukier Moneef
Klein Nikolas
Auber Bernd
Wickert Julia
Schröder Julia
Zoll Barbara
Burfeind Peter
Bartels Iris
Alsat Ea A.
Lingen Michael
Grzmil Paweł
Schulze Sandra
Keyser Johanna
Weise Dagmar
Borchers M.
Hobbiebrunken Elke
Röbl Marcus
Gartner Jutta
Brockmann Knut
Zirn Birgit
Volume
83
Issue
1
Pages
53-65
ISSN
0009-9163
eISSN
1399-0004
Keywords in English
array comparative genomic hybridization
copy number variants
developmental delay
intellectual disability
microdeletion syndromes
microduplication syndromes
Remarks
Bibliogr. s. 64-65
Language
English
Container language
English
Affiliation
Wydział Biologii i Nauk o Ziemi : Instytut Zoologii
cris.lastimport.scopus | 2024-04-07T16:57:11Z | |
dc.affiliation | Wydział Biologii i Nauk o Ziemi : Instytut Zoologii | pl |
dc.contributor.author | Shoukier, Moneef | pl |
dc.contributor.author | Klein, Nikolas | pl |
dc.contributor.author | Auber, Bernd | pl |
dc.contributor.author | Wickert, Julia | pl |
dc.contributor.author | Schröder, Julia | pl |
dc.contributor.author | Zoll, Barbara | pl |
dc.contributor.author | Burfeind, Peter | pl |
dc.contributor.author | Bartels, Iris | pl |
dc.contributor.author | Alsat, Ea A. | pl |
dc.contributor.author | Lingen, Michael | pl |
dc.contributor.author | Grzmil, Paweł - 128211 | pl |
dc.contributor.author | Schulze, Sandra | pl |
dc.contributor.author | Keyser, Johanna | pl |
dc.contributor.author | Weise, Dagmar | pl |
dc.contributor.author | Borchers, M. | pl |
dc.contributor.author | Hobbiebrunken, Elke | pl |
dc.contributor.author | Röbl, Marcus | pl |
dc.contributor.author | Gartner, Jutta | pl |
dc.contributor.author | Brockmann, Knut | pl |
dc.contributor.author | Zirn, Birgit | pl |
dc.date.accessioned | 2015-04-16T08:52:30Z | |
dc.date.available | 2015-04-16T08:52:30Z | |
dc.date.issued | 2013 | pl |
dc.description.additional | Bibliogr. s. 64-65 | pl |
dc.description.number | 1 | pl |
dc.description.physical | 53-65 | pl |
dc.description.volume | 83 | pl |
dc.identifier.doi | 10.1111/j.1399-0004.2012.01850.x | pl |
dc.identifier.eissn | 1399-0004 | pl |
dc.identifier.issn | 0009-9163 | pl |
dc.identifier.uri | http://ruj.uj.edu.pl/xmlui/handle/item/5127 | |
dc.language | eng | pl |
dc.language.container | eng | pl |
dc.rights | Dodaję tylko opis bibliograficzny | * |
dc.rights.licence | bez licencji | |
dc.rights.uri | * | |
dc.subject.en | array comparative genomic hybridization | pl |
dc.subject.en | copy number variants | pl |
dc.subject.en | developmental delay | pl |
dc.subject.en | intellectual disability | pl |
dc.subject.en | microdeletion syndromes | pl |
dc.subject.en | microduplication syndromes | pl |
dc.subtype | Article | pl |
dc.title | Array CGH in patients with developmental delay or intellectual disability : are there phenotypic clues to pathogenic copy number variants? | pl |
dc.title.journal | Clinical Genetics | pl |
dc.type | JournalArticle | pl |
dspace.entity.type | Publication |
Affiliations
Wydział Biologii
Grzmil, Paweł
No affiliation
Shoukier, Moneef
Klein, Nikolas
Auber, Bernd
Wickert, Julia
Schröder, Julia
Zoll, Barbara
Burfeind, Peter
Bartels, Iris
Alsat, Ea A.
Lingen, Michael
Schulze, Sandra
Keyser, Johanna
Weise, Dagmar
Borchers, M.
Hobbiebrunken, Elke
Röbl, Marcus
Gartner, Jutta
Brockmann, Knut
Zirn, Birgit