h1

h2

h3

h4

h5
h6


001     1023195
005     20251222095421.0
024 7 _ |2 ISSN
|a 1018-4813
024 7 _ |2 ISSN
|a 1476-5438
024 7 _ |2 WOS
|a WOS:001421430502374
037 _ _ |a RWTH-2025-10553
041 _ _ |a English
082 _ _ |a 610
100 1 _ |0 P:(DE-82)987556
|a Lischka, Annette
|b 0
|u rwth
111 2 _ |a 57. Conference of the European-Society-of-Human-Genetics
|c Berlin
|d 2024-06-01 - 2024-06-04
|g ESHG 2024
|w Germany
245 _ _ |a Biallelic loss-of-function variants in IST1 are associated with a complex neurologic disorder
|h online, print
260 _ _ |a Basingstoke
|b Stockton Press
|c 2024
300 _ _ |a 1500-1501
336 7 _ |0 0
|2 EndNote
|a Journal Article
336 7 _ |0 PUB:(DE-HGF)1
|2 PUB:(DE-HGF)
|a Abstract
336 7 _ |0 PUB:(DE-HGF)16
|2 PUB:(DE-HGF)
|a Journal Article
|b journal
|m journal
336 7 _ |0 PUB:(DE-HGF)8
|2 PUB:(DE-HGF)
|a Contribution to a conference proceedings
336 7 _ |2 BibTeX
|a ARTICLE
336 7 _ |2 DRIVER
|a article
336 7 _ |2 DataCite
|a Output Types/Journal article
336 7 _ |2 ORCID
|a JOURNAL_ARTICLE
500 _ _ |a Hybrid poster abstract. - In Artikel: Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: Hybrid Posters. - Seiten 1231–1841
588 _ _ |a Dataset connected to , ,
591 _ _ |a Germany
700 1 _ |0 P:(DE-82)027621
|a Eggermann, Katja
|b 1
|u rwth
700 1 _ |0 P:(DE-82)006350
|a Maier, Andrea
|b 2
|u rwth
700 1 _ |0 P:(DE-82)889089
|a Hasan, Dimah
|b 3
|u rwth
700 1 _ |0 P:(DE-82)1016280
|a Franken, Lena
|b 4
|u rwth
700 1 _ |0 P:(DE-588)1328150429
|a Michalewicz, Emilia
|b 5
|u rwth
700 1 _ |0 P:(DE-82)781732
|a Götzl, Rebekka
|b 6
|u rwth
700 1 _ |0 P:(DE-82)125375
|a Lohmann, Tibor
|b 7
|u rwth
700 1 _ |0 P:(DE-82)021187
|a Häusler, Martin Georg
|b 8
|u rwth
700 1 _ |0 P:(DE-588)12981525X
|a Elbracht, Miriam
|b 9
|u rwth
700 1 _ |0 P:(DE-82)IDM06155
|a Kurth, Ingo
|b 10
|u rwth
700 1 _ |0 P:(DE-82)142479
|a Kraft, Florian
|b 11
|u rwth
700 1 _ |0 P:(DE-82)466582
|a Knopp, Cordula
|b 12
|u rwth
770 _ _ |a Abstracts from the 57th European Society of Human Genetics (ESHG) Conference
773 _ _ |0 PERI:(DE-600)2005160-8
|n Supplement 2
|p P11.096.C
|t European journal of human genetics
|v 32
|x 1018-4813
|y 2024
856 4 _ |u https://doi.org/10.1038/s41431-024-01734-4
|y Homepage of journal
909 C O |o oai:publications.rwth-aachen.de:1023195
|p VDB
910 1 _ |0 I:(DE-588b)36225-6
|6 P:(DE-82)987556
|a RWTH Aachen
|b 0
|k RWTH
910 1 _ |0 I:(DE-588b)36225-6
|6 P:(DE-82)027621
|a RWTH Aachen
|b 1
|k RWTH
910 1 _ |0 I:(DE-588b)36225-6
|6 P:(DE-82)006350
|a RWTH Aachen
|b 2
|k RWTH
910 1 _ |0 I:(DE-588b)36225-6
|6 P:(DE-82)889089
|a RWTH Aachen
|b 3
|k RWTH
910 1 _ |0 I:(DE-588b)36225-6
|6 P:(DE-82)1016280
|a RWTH Aachen
|b 4
|k RWTH
910 1 _ |0 I:(DE-588b)36225-6
|6 P:(DE-588)1328150429
|a RWTH Aachen
|b 5
|k RWTH
910 1 _ |0 I:(DE-588b)36225-6
|6 P:(DE-82)781732
|a RWTH Aachen
|b 6
|k RWTH
910 1 _ |0 I:(DE-588b)36225-6
|6 P:(DE-82)125375
|a RWTH Aachen
|b 7
|k RWTH
910 1 _ |0 I:(DE-588b)36225-6
|6 P:(DE-82)021187
|a RWTH Aachen
|b 8
|k RWTH
910 1 _ |0 I:(DE-588b)36225-6
|6 P:(DE-588)12981525X
|a RWTH Aachen
|b 9
|k RWTH
910 1 _ |0 I:(DE-588b)36225-6
|6 P:(DE-82)IDM06155
|a RWTH Aachen
|b 10
|k RWTH
910 1 _ |0 I:(DE-588b)36225-6
|6 P:(DE-82)142479
|a RWTH Aachen
|b 11
|k RWTH
910 1 _ |0 I:(DE-588b)36225-6
|6 P:(DE-82)466582
|a RWTH Aachen
|b 12
|k RWTH
914 1 _ |y 2024
915 _ _ |0 StatID:(DE-HGF)0030
|2 StatID
|a Peer Review
|b ASC
|d 2024-12-27
915 _ _ |0 StatID:(DE-HGF)0100
|2 StatID
|a JCR
|b EUR J HUM GENET : 2022
|d 2024-12-27
915 _ _ |0 StatID:(DE-HGF)0113
|2 StatID
|a WoS
|b Science Citation Index Expanded
|d 2024-12-27
915 _ _ |0 StatID:(DE-HGF)0150
|2 StatID
|a DBCoverage
|b Web of Science Core Collection
|d 2024-12-27
915 _ _ |0 StatID:(DE-HGF)0160
|2 StatID
|a DBCoverage
|b Essential Science Indicators
|d 2024-12-27
915 _ _ |0 StatID:(DE-HGF)0199
|2 StatID
|a DBCoverage
|b Clarivate Analytics Master Journal List
|d 2024-12-27
915 _ _ |0 StatID:(DE-HGF)0200
|2 StatID
|a DBCoverage
|b SCOPUS
|d 2024-12-27
915 _ _ |0 StatID:(DE-HGF)0300
|2 StatID
|a DBCoverage
|b Medline
|d 2024-12-27
915 _ _ |0 StatID:(DE-HGF)0600
|2 StatID
|a DBCoverage
|b Ebsco Academic Search
|d 2024-12-27
915 _ _ |0 StatID:(DE-HGF)1030
|2 StatID
|a DBCoverage
|b Current Contents - Life Sciences
|d 2024-12-27
915 _ _ |0 StatID:(DE-HGF)1050
|2 StatID
|a DBCoverage
|b BIOSIS Previews
|d 2024-12-27
915 _ _ |0 StatID:(DE-HGF)1190
|2 StatID
|a DBCoverage
|b Biological Abstracts
|d 2024-12-27
915 _ _ |0 StatID:(DE-HGF)3002
|2 StatID
|a DEAL Springer
|d 2024-12-27
|w ger
915 _ _ |0 StatID:(DE-HGF)9905
|2 StatID
|a IF >= 5
|b EUR J HUM GENET : 2022
|d 2024-12-27
920 1 _ |0 I:(DE-82)532010-2_20140620
|k 532010-2 ; 936210
|l Klinik und Lehrstuhl für Diagnostische und Interventionelle Radiologie
|x 0
920 1 _ |0 I:(DE-82)525000-2_20140620
|k 924610
|l Institut und Lehrstuhl für Humangenetik und Genommedizin
|x 1
920 1 _ |0 I:(DE-82)535000-2_20140620
|k 535000-2 ; 933810
|l Klinik und Lehrstuhl für Neurologie
|x 2
920 1 _ |0 I:(DE-82)536000-2_20140620
|k 536000-2 ; 938110
|l Klinik und Lehrstuhl für Augenheilkunde
|x 3
920 1 _ |0 I:(DE-82)533530-2_20140620
|k 533530-2 ; 937310
|l Klinik und Lehrstuhl für Plastische Chirurgie, Hand- und Verbrennungschirurgie
|x 4
920 1 _ |0 I:(DE-82)938720_20191118
|k 938720 ; 537500-5
|l Lehr- und Forschungsgebiet Neuropädiatrie und Sozialpädiatrie
|x 5
980 _ _ |a I:(DE-82)525000-2_20140620
980 _ _ |a I:(DE-82)532010-2_20140620
980 _ _ |a I:(DE-82)533530-2_20140620
980 _ _ |a I:(DE-82)535000-2_20140620
980 _ _ |a I:(DE-82)536000-2_20140620
980 _ _ |a I:(DE-82)938720_20191118
980 _ _ |a UNRESTRICTED
980 _ _ |a VDB
980 _ _ |a abstract
980 _ _ |a contrib
980 _ _ |a journal


LibraryCollectionCLSMajorCLSMinorLanguageAuthor
Marc 21