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001     1007150
005     20250513050441.0
024 7 _ |2 HSB
|a eva565062
024 7 _ |2 ISSN
|a 0002-9297
024 7 _ |2 ISSN
|a 1537-6605
024 7 _ |2 SCOPUS
|a SCOPUS:2-s2.0-85181848634
024 7 _ |2 WOS
|a WOS:001154201800001
024 7 _ |2 doi
|a 10.1016/j.ajhg.2023.12.004
024 7 _ |2 pmid
|a pmid:38181735
037 _ _ |a RWTH-CONV-253504
041 _ _ |a English
100 1 _ |a Paul, Maimuna S.
|b 0
245 _ _ |a A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
|h online, print
260 _ _ |a New York, NY [u.a.]
|b Cell Press
|c 2024
336 7 _ |0 0
|2 EndNote
|a Journal Article
336 7 _ |0 PUB:(DE-HGF)16
|2 PUB:(DE-HGF)
|a Journal Article
|b journal
|m journal
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
591 _ _ |a Australia
591 _ _ |a Canada
591 _ _ |a France
591 _ _ |a Germany
591 _ _ |a Iran
591 _ _ |a UK
591 _ _ |a USA
700 1 _ |a Michener, Sydney L.
|b 1
700 1 _ |a Pan, Hongling
|b 2
700 1 _ |a Chan, Hiuling
|b 3
700 1 _ |a Pfliger, Jessica M.
|b 4
700 1 _ |a Rosenfeld, Jill A.
|b 5
700 1 _ |a Lerma, Vanesa C.
|b 6
700 1 _ |a Tran, Alyssa
|b 7
700 1 _ |a Longley, Megan A.
|b 8
700 1 _ |a Lewis, Richard A.
|b 9
700 1 _ |a Weisz-Hubshman, Monika
|b 10
700 1 _ |a Bekheirnia, Mir Reza
|b 11
700 1 _ |a Bekheirnia, Nasim
|b 12
700 1 _ |a Massingham, Lauren
|b 13
700 1 _ |a Zech, Michael
|b 14
700 1 _ |a Wagner, Matias
|b 15
700 1 _ |a Engels, Hartmut
|b 16
700 1 _ |a Cremer, Kirsten
|b 17
700 1 _ |a Mangold, Elisabeth
|b 18
700 1 _ |a Peters, Sophia
|b 19
700 1 _ |a Trautmann, Jessica
|b 20
700 1 _ |a Mester, Jessica L.
|b 21
700 1 _ |a Guillen Sacoto, Maria J.
|b 22
700 1 _ |a Person, Richard
|b 23
700 1 _ |a McDonnell, Pamela P.
|b 24
700 1 _ |a Cohen, Stacey R.
|b 25
700 1 _ |a Lusk, Laina
|b 26
700 1 _ |a Cohen, Ana S. A.
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700 1 _ |a Le Pichon, Jean-Baptiste
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700 1 _ |a Pastinen, Tomi
|b 29
700 1 _ |a Zhou, Dihong
|b 30
700 1 _ |a Engleman, Kendra
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700 1 _ |a Racine, Caroline
|b 32
700 1 _ |a Faivre, Laurence
|b 33
700 1 _ |a Moutton, Sébastien
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700 1 _ |a Denommé-Pichon, Anne-Sophie
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700 1 _ |a Koh, Hyun Yong
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700 1 _ |a Poduri, Annapurna
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700 1 _ |a Prasad, Chitra
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700 1 _ |a Osmond, Matthew
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700 1 _ |a Scheffer, Ingrid E.
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700 1 _ |a Carvill, Gemma L.
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700 1 _ |a Mefford, Heather
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700 1 _ |a Undiagnosed Diseases Network
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700 1 _ |a Bacino, Carlos A.
|b 57
700 1 _ |a Lee, Brendan H.
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700 1 _ |a Chao, Hsiao-Tuan
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|b 258
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700 1 _ |a Zuchner, Stephan
|b 318
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773 _ _ |0 PERI:(DE-600)1473813-2
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LibraryCollectionCLSMajorCLSMinorLanguageAuthor
Marc 21