Found: 13
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The tale of two genes: from nextgeneration sequencing to phenotype.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 2, p. 1, doi. 10.1101/mcs.a004846
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- Article
A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.
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- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189324
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- Article
Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation.
- Published in:
- FASEB Journal, 2021, v. 35, n. 11, p. 1, doi. 10.1096/fj.202100823R
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- Article
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
- Published in:
- Nature Communications, 2016, v. 7, n. 5, p. 11601, doi. 10.1038/ncomms11601
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- Article
From Genotype to Phenotype—A Review of Kabuki Syndrome †.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101761
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- Article
Lyso-globotriaosylsphingosine (lyso-Gb) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 881, doi. 10.1007/s10545-012-9547-1
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- Article
Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome.
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- Human Molecular Genetics, 2023, v. 32, n. 13, p. 2251, doi. 10.1093/hmg/ddad059
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- Article
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 17, p. 2937, doi. 10.1093/hmg/ddz117
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- Article
In Silico Investigation of Flavonoids as Potential Trypanosomal Nucleoside Hydrolase Inhibitors.
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- Advances in Bioinformatics, 2015, p. 1, doi. 10.1155/2015/826047
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- Article
The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 640, doi. 10.1002/ajmg.a.61467
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- Article
Prenatal and perinatal history in Kabuki Syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 85, doi. 10.1002/ajmg.a.61387
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- Article
A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1866, doi. 10.1002/ajmg.a.61291
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- Article
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region.
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- Epilepsia (Series 4), 2019, v. 60, n. 3, p. 406, doi. 10.1111/epi.14653
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- Article