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Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.
- Published in:
- Neurogenetics, 2021, v. 22, n. 2, p. 137, doi. 10.1007/s10048-021-00637-6
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- Article
Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series.
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- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.864445
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- Publication type:
- Article
Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series.
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- Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.685532
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- Article
Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 5, p. 628, doi. 10.1111/cge.14051
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- Article
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases.
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- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1615, doi. 10.1002/acn3.52079
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- Publication type:
- Article
Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing IκB kinase α.
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- British Journal of Dermatology, 2023, v. 189, n. 1, p. 131, doi. 10.1093/bjd/ljad075
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- Article
ZNF668 deficiency causes a recognizable disorder of DNA damage repair.
- Published in:
- Human Genetics, 2021, v. 140, n. 9, p. 1395, doi. 10.1007/s00439-021-02321-z
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- Publication type:
- Article
Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders.
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- Medical Sciences, 2023, v. 11, n. 2, p. 29, doi. 10.3390/medsci11020029
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- Article
Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure.
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- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2016, doi. 10.1093/hmg/ddad033
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- Publication type:
- Article
Neuropsychological and Psychiatric Features of Children and Adolescents Affected With Mitochondrial Diseases: A Systematic Review.
- Published in:
- Frontiers in Psychiatry, 2020, v. 11, p. 1, doi. 10.3389/fpsyt.2020.00747
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- Publication type:
- Article