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Page 1
Atypical cerebral palsy: genomics analysis enables precision medicine.
Genet Med. 2019 Jul;21(7):1621-1628. doi: 10.1038/s41436-018-0376-y. Epub 2018 Dec 13.
Genet Med. 2019.
PMID: 30542205
Free article.
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.
van Karnebeek CD, Blydt-Hansen I, Matthews AM, Avramovic V, Price M, Drogemoller B, Shyr C, Lee J, Mwenifumbo J, Ghani A, Stockler S, Friedman JM, Lehman A; CAUSES Genomic Study; Ross CJ, Wasserman WW, Tarailo-Graovac M, Horvath GA.
van Karnebeek CD, et al. Among authors: blydt hansen i.
Neurogenetics. 2021 Oct;22(4):251-262. doi: 10.1007/s10048-021-00652-7. Epub 2021 Jul 2.
Neurogenetics. 2021.
PMID: 34213677
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Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.
Horvath GA, Zhao Y, Tarailo-Graovac M, Boelman C, Gill H, Shyr C, Lee J, Blydt-Hansen I, Drögemöller BI, Moreland J, Ross CJ, Wasserman WW, Masotti A, Slesinger PA, van Karnebeek CDM.
Horvath GA, et al. Among authors: blydt hansen i.
Neuroscience. 2018 Aug 1;384:152-164. doi: 10.1016/j.neuroscience.2018.05.031. Epub 2018 May 29.
Neuroscience. 2018.
PMID: 29852244
Free PMC article.
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Antenatal diagnosis, neonatal brain volumes, and neurodevelopment in transposition of the great arteries.
Selvanathan T, Mabbott C, Au-Young SH, Seed M, Miller SP, Chau V; PCNR Study Group.
Selvanathan T, et al.
Dev Med Child Neurol. 2024 Jan 11. doi: 10.1111/dmcn.15840. Online ahead of print.
Dev Med Child Neurol. 2024.
PMID: 38204357
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A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.
Matthews AM, Tarailo-Graovac M, Price EM, Blydt-Hansen I, Ghani A, Drögemöller BI, Robinson WP, Ross CJ, Wasserman WW, Siden H, van Karnebeek CD.
Matthews AM, et al. Among authors: blydt hansen i.
Eur J Med Genet. 2017 Oct;60(10):548-552. doi: 10.1016/j.ejmg.2017.07.015. Epub 2017 Aug 1.
Eur J Med Genet. 2017.
PMID: 28778789
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Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.
Horvath GA, Tarailo-Graovac M, Bartel T, Race S, Van Allen MI, Blydt-Hansen I, Ross CJ, Wasserman WW, Connolly MB, van Karnebeek CDM.
Horvath GA, et al. Among authors: blydt hansen i.
J Child Neurol. 2018 Jan;33(1):106-113. doi: 10.1177/0883073817740443.
J Child Neurol. 2018.
PMID: 29246092
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