Found: 12
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Case report: Variants in the ERCC4 gene as a rare cause of cerebellar ataxia with chorea.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1107460
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- Publication type:
- Article
NTHL1 Gene Mutations in Polish Polyposis Patients—Weighty Player or Vague Background?
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 19, p. 14548, doi. 10.3390/ijms241914548
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- Publication type:
- Article
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
- Published in:
- Genes, 2021, v. 12, n. 12, p. 2014, doi. 10.3390/genes12122014
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- Publication type:
- Article
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 2, p. 190, doi. 10.1111/cge.14079
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- Publication type:
- Article
Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 4, p. 371, doi. 10.1111/cge.13611
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- Publication type:
- Article
Współwystępowanie choroby Parkinsona i pierwotnie postępującej postaci stwardnienia rozsianego.
- Published in:
- Polski Przegląd Neurologiczny, 2021, v. 17, n. 3, p. 141, doi. 10.5603/PPN.2021.0026
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- Publication type:
- Article
Thyroid Function in Children with Down Syndrome in the Polish Population: A Case-Control Study.
- Published in:
- Archives of Iranian Medicine (AIM), 2020, v. 23, n. 6, p. 386, doi. 10.34172/aim.2020.31
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- Publication type:
- Article
Case report: Cerebrotendinous xanthomatosis treatment follow-up.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1409138
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- Publication type:
- Article
THE SPECTRUM OF PLP1 GENE MUTATIONS IN PATIENTS WITH THE CLASSICAL FORM OF THE PELIZAEUS-MERZBACHER DISEASE.
- Published in:
- Developmental Period Medicine, 2013, v. 17, n. 4, p. 293
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- Publication type:
- Article
Expanding the phenotype associated with missense mutations of the ARX gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1813, doi. 10.1002/ajmg.a.36003
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- Publication type:
- Article
Immune Dysregulation in Patients With Chromosome 18q Deletions—Searching for Putative Loci for Autoimmunity and Immunodeficiency.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.742834
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- Publication type:
- Article
Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.
- Published in:
- 2021
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- Publication type:
- journal article