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Title:

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

Document type:
Zeitschriftenaufsatz
Author(s):
Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Rosenfeld, Jill A.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Lewis, Richard A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Guillen Sacoto, Maria J.; Person, Richard; McDonnell, Pamela P.; Cohen, Stacey...     »
Journal title:
The American Journal of Human Genetics
Year:
2024
Journal volume:
111
Journal issue:
6
Pages contribution:
1239
Fulltext / DOI:
doi:10.1016/j.ajhg.2024.04.022
Publisher:
Elsevier BV
E-ISSN:
0002-9297
Date of publication:
01.06.2024
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