Found: 21
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A novel de novo 2.5 Mb microdeletion of 7q22.1 harbours candidate gene for neurobehavioural disorders and mental retardation.
- Published in:
- Journal of Genetics, 2014, v. 93, n. 2, p. 501, doi. 10.1007/s12041-014-0369-9
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- Article
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 7, p. 2374, doi. 10.3390/ijms21072374
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- Article
Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 1, p. 1, doi. 10.1002/mgg3.2059
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- Article
Case report: Late onset type 3 hemiplegic migraine with permanent neurologic sequelae after attacks.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1359994
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- Article
Case report of a family with hereditary inclusion body myopathy with VCP gene variant and literature review.
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- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1290960
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- Article
Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1136, doi. 10.1002/ajmg.a.36409
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- Article
Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02921-0
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- Article
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.
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- 2022
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- Publication type:
- journal article
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
- Published in:
- BMC Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12863-016-0354-9
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- Publication type:
- Article
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.
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- Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01713-y
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- Publication type:
- Article
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
- Published in:
- 2021
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- Publication type:
- journal article
Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report.
- Published in:
- 2021
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- Publication type:
- journal article
Clinical, cytogenetic and molecular study of a case of ring chromosome 10.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0124-9
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- Publication type:
- Article
Unraveling the Pathogenetic Mechanisms Underlying the Association between Specific Mitochondrial DNA Haplogroups and Parkinson's Disease.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 8, p. 694, doi. 10.3390/cells13080694
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- Article
Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra.
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- Pediatric Rheumatology, 2016, v. 14, p. 1, doi. 10.1186/s12969-016-0081-9
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- Publication type:
- Article
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
- Published in:
- 2016
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- Publication type:
- journal article
Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1994, doi. 10.1002/humu.24456
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- Article
Ischemic Stroke Genetics: What Is New and How to Apply It in Clinical Practice?
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- Genes, 2022, v. 13, n. 1, p. 48, doi. 10.3390/genes13010048
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- Publication type:
- Article
Novel In-Frame Deletion in HTRA1 Gene, Responsible for Stroke at a Young Age and Dementia—A Case Study.
- Published in:
- 2021
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- Publication type:
- Case Study
PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.
- Published in:
- Medicina (1010660X), 2022, v. 58, n. 11, p. 1526, doi. 10.3390/medicina58111526
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- Publication type:
- Article
Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome.
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- BMC Pediatrics, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12887-023-04357-8
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- Publication type:
- Article