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Publisher Correction: Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations.
- Published in:
- Human Genetics, 2022, v. 141, n. 6, p. 1223, doi. 10.1007/s00439-021-02362-4
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- Article
Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 9, p. 1, doi. 10.1002/mgg3.2202
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- Article
Two heterozygous mutations in the calcium/calmodulin‐dependent serine protein kinase gene (CASK) in cases with developmental disorders.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 11, p. 1, doi. 10.1002/mgg3.2065
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- Publication type:
- Article
De novo variants in WDR45 underlie beta‐propeller protein‐associated neurodegeneration in five independent families.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1499
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- Publication type:
- Article
A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 2, p. N.PAG, doi. 10.1002/mgg3.1096
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- Article
Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome.
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- Internal Medicine, 2021, v. 60, n. 23, p. 3721, doi. 10.2169/internalmedicine.6467-20
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- Article
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
- Published in:
- Human Genetics, 2020, v. 139, n. 4, p. 499, doi. 10.1007/s00439-020-02115-9
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- Publication type:
- Article
Spectrum of RB1 Germline Mutations and Clinical Features in Unrelated Chinese Patients With Retinoblastoma.
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- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00142
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- Article
MED12 -Related Disease in a Chinese Girl: Clinical Characteristics and Underlying Mechanism.
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- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00129
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- Article
Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH.
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- Medical Science Monitor, 2018, v. 24, p. 751, doi. 10.12659/MSM.907288
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- Article
Research and practice on safe and efficient mining method of residual pillars.
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- Nonferrous Metals (Mining Section), 2024, v. 76, n. 4, p. 28, doi. 10.3969/j.issn.1671-4172.2024.04.005
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- Article
PhenoModifier: a genetic modifier database for elucidating the genetic basis of human phenotypic variation.
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- Nucleic Acids Research, 2020, v. 48, n. D1, p. D977, doi. 10.1093/nar/gkz930
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- Publication type:
- Article
Effect of α-cyclodextrin (α-CD) on the Crystallization Behavior of Poly(3-hydroxybutyrate)(PHB).
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- Journal of Polymer Materials, 2013, v. 30, n. 4, p. 503
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- Publication type:
- Article
Evaluation of retinal vasculature before and after treatment of children with obstructive sleep apnea-hypopnea syndrome by optical coherence tomography angiography.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2019, v. 257, n. 3, p. 543, doi. 10.1007/s00417-018-04207-9
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- Publication type:
- Article
Two novel heterozygous truncating variants in NR4A2 identified in patients with neurodevelopmental disorder and brief literature review.
- Published in:
- Frontiers in Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnins.2022.956429
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- Article