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Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1011, doi. 10.3233/JND-230235
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- Article
Epidermal growth factor receptor mutations in East European non-small cell lung cancer patients.
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- Cellular Oncology (2211-3428), 2015, v. 38, n. 2, p. 145, doi. 10.1007/s13402-014-0211-7
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- Article
EGFR mutation status yield from bronchoalveolar lavage in patients with primary pulmonary adenocarcinoma compared to a venous blood sample and tissue biopsy.
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- PeerJ, 2021, p. 1, doi. 10.7717/peerj.11448
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- Article
Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome.
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- Behavioural Neurology, 2015, v. 2015, p. 1, doi. 10.1155/2015/639539
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- Article
Novel Mutations in the DYNC1 H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies.
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- Human Mutation, 2015, v. 36, n. 3, p. 287, doi. 10.1002/humu.22744
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- Article
Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix–Saguenay.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2483
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- Article
Molecular Screening for Fragile X Syndrome in Children with Unexplained Intellectual Disability and/or Autistic Behaviour.
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- Folia Medica, 2022, v. 64, n. 1, p. 27, doi. 10.3897/folmed.64.e60518
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- Article
Comparative Characteristics of Napsin A, TTF 1 and EGFR Mutation Expression in Mucinous Lung Cell Carcinomas.
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- Folia Medica, 2017, v. 59, n. 2, p. 174, doi. 10.1515/folmed-2017-0020
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- Article