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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2019 | 2 |
2020 | 1 |
2021 | 2 |
2024 | 0 |
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4 results
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Page 1
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Hum Genet. 2021 Jul;140(7):1109-1120. doi: 10.1007/s00439-021-02283-2. Epub 2021 May 4.
Hum Genet. 2021.
PMID: 33944996
Free PMC article.
Clinical and molecular spectrum of CHOPS syndrome.
Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K.
Raible SE, et al.
Am J Med Genet A. 2019 Jul;179(7):1126-1138. doi: 10.1002/ajmg.a.61174. Epub 2019 May 6.
Am J Med Genet A. 2019.
PMID: 31058441
Free PMC article.
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ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children.
Sasaki M, Sumitomo N, Shimizu-Motohashi Y, Takeshita E, Kurosawa K, Kosaki K, Iwama K, Mizuguchi T, Matsumoto N.
Sasaki M, et al.
Dev Med Child Neurol. 2021 Jan;63(1):111-115. doi: 10.1111/dmcn.14666. Epub 2020 Sep 7.
Dev Med Child Neurol. 2021.
PMID: 32895939
Free PMC article.
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Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report.
Den K, Kudo Y, Kato M, Watanabe K, Doi H, Tanaka F, Oguni H, Miyatake S, Mizuguchi T, Takata A, Miyake N, Mitsuhashi S, Matsumoto N.
Den K, et al.
BMC Neurol. 2019 Oct 27;19(1):253. doi: 10.1186/s12883-019-1489-x.
BMC Neurol. 2019.
PMID: 31656175
Free PMC article.
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