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Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.
Clin Genet. 2024 May;105(5):523-532. doi: 10.1111/cge.14487. Epub 2024 Jan 21.
Clin Genet. 2024.
PMID: 38247296
Characterizing ambulatory function in children with PPP2R5D-related neurodevelopmental disorder.
Zreibe K, Kanner CH, Uher D, Beard G, Patterson M, Harris M, Doerger J, Calamia S, Chung WK, Montes J.
Zreibe K, et al. Among authors: kanner ch.
Gait Posture. 2024 May;110:77-83. doi: 10.1016/j.gaitpost.2024.03.012. Epub 2024 Mar 24.
Gait Posture. 2024.
PMID: 38547676
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Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder.
Kanner CH, Uher D, Zreibe K, Beard G, Patterson M, Harris M, Doerger J, Calamia S, Chung WK, Montes J.
Kanner CH, et al.
Orphanet J Rare Dis. 2024 Feb 7;19(1):45. doi: 10.1186/s13023-024-03067-3.
Orphanet J Rare Dis. 2024.
PMID: 38326877
Free PMC article.
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