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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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Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility.
Harding ER, Kanner CH, Pasternak A, Glanzman AM, Dunaway Young S, Rao AK, McDermott MP, Zolkipli-Cunningham Z, Day JW, Finkel RS, Darras BT, De Vivo DC, Montes J.
Harding ER, et al. Among authors: kanner ch.
J Clin Med. 2024 Apr 30;13(9):2634. doi: 10.3390/jcm13092634.
J Clin Med. 2024.
PMID: 38731167
Free PMC article.
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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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Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.
Sudnawa KK, Li W, Calamia S, Kanner CH, Bain JM, Abdelhakim AH, Geltzeiler A, Mebane CM, Provenzano FA, Sands TT, Fee RJ, Montes J, Shen Y, Chung WK.
Sudnawa KK, et al. Among authors: kanner ch.
Genet Med. 2024 May 20:101169. doi: 10.1016/j.gim.2024.101169. Online ahead of print.
Genet Med. 2024.
PMID: 38785164
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