Found: 19
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The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders.
- Published in:
- BioMed Research International, 2014, v. 2014, p. 1
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- Publication type:
- Article
Znaczenie czynników genetycznych oraz przedi okołoporodowych w etiologii zaburzeń ze spektrum autyzmu - wskazania do konsultacji genetycznej.
- Published in:
- Psychiatria Polska, 2016, v. 50, n. 3, p. 543, doi. 10.12740/PP/43234
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- Publication type:
- Article
Zaburzenia ze spektrum autyzmu - epidemiologia, objawy, współzachorowalność i rozpoznawanie.
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- Psychiatria Polska, 2014, v. 48, n. 4, p. 653
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- Publication type:
- Article
Spinal muscular atrophy: epidemiology and health burden in children -- a Polish national healthcare database perspective before introduction of SMA-specific treatment.
- Published in:
- Polish Journal of Neurology & Neurosurgery / Neurologia i Neurochirurgia Polska, 2021, v. 55, n. 5, p. 479
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- Article
Kabuki Syndrome—Clinical Review with Molecular Aspects.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 468, doi. 10.3390/genes12040468
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- Article
A novel KEL c.1414-1G>T allele in a polish patient with anti-Ku antibody.
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- 2022
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- Publication type:
- journal article
Autoimmune Neurological Disorder with Anti-Ma2/Ta Antibodies in a Pediatric Patient.
- Published in:
- Israel Medical Association Journal, 2018, v. 20, n. 10, p. 653
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- Article
Malignant transformation of mucinous ovarian cystadenomas of intestinal epithelial type.
- Published in:
- Histopathology, 1983, v. 7, n. 4, p. 497, doi. 10.1111/j.1365-2559.1983.tb02263.x
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- Publication type:
- Article
Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 6, p. 581, doi. 10.1111/cge.13450
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- Publication type:
- Article
POLG gene mutation. Clinico-neuropathological study.
- Published in:
- Folia Neuropathologica, 2020, v. 58, n. 4, p. 386, doi. 10.5114/fn.2020.102441
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- Publication type:
- Article
Clinico-pathological correlation in case of BRAT1 mutation.
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- Folia Neuropathologica, 2018, v. 56, n. 4, p. 362, doi. 10.5114/fn.2018.80870
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- Publication type:
- Article
Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature.
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- Folia Neuropathologica, 2012, v. 50, n. 4, p. 346, doi. 10.5114/fn.2012.32364
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- Publication type:
- Article
Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 320, doi. 10.3390/diagnostics11020320
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- Publication type:
- Article
Clinical and molecular characteristics of Kabuki syndrome patients with missense variants-novel features and literature review.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1402531
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- Publication type:
- Article
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
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- Cellular & Molecular Life Sciences, 2022, v. 79, n. 6, p. 1, doi. 10.1007/s00018-022-04343-w
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- Publication type:
- Article
Neuroleptic malignant syndrome in an adolescent with CYP2D6 deficiency.
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- European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1639, doi. 10.1007/s00431-013-2208-z
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- Publication type:
- Article
The comparison of anthropometric variables in mentally retarded boys with and without fragile X syndrome.
- Published in:
- Clinical Genetics, 2000, v. 57, n. 6, p. 456, doi. 10.1034/j.1399-0004.2000.570611.x
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- Publication type:
- Article
FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1899
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- Publication type:
- Article
Comparison of Tests for Equivalence of Methods for Measuring PM<sub>10</sub> Dust in Ambient Air.
- Published in:
- Polish Journal of Environmental Studies, 2011, v. 20, n. 6, p. 1465
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- Publication type:
- Article