Found: 18
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Analysis of voice quality in patients with late-onset Pompe disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Balance control of children and adolescents suffering from vertigo symptoms: in what way posturography is helpful in clinical evaluation of vestibular system pathology?
- Published in:
- Acta of Bioengineering & Biomechanics, 2019, v. 21, n. 1, p. 73, doi. 10.5277/ABB-01257-2018-02
- By:
- Publication type:
- Article
MTHFR 677T Is a Strong Determinant of the Degree of Hearing Loss Among Polish Males with Postlingual Sensorineural Hearing Impairment.
- Published in:
- DNA & Cell Biology, 2012, v. 31, n. 7, p. 1267, doi. 10.1089/dna.2012.1607
- By:
- Publication type:
- Article
Kardiologiczna manifestacja zespołu MELAS wywołana mutacją mDNA w pozycji 3243.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2014, v. 72, n. 1, p. 83, doi. 10.5603/KP.2014.0009
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- Publication type:
- Article
Postlingual Hearing Loss as a Mitochondrial 3243A>G Mutation Phenotype.
- Published in:
- PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0044054
- By:
- Publication type:
- Article
Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?
- Published in:
- Metabolic Brain Disease, 2018, v. 33, n. 1, p. 191, doi. 10.1007/s11011-017-0122-1
- By:
- Publication type:
- Article
Auditory Discrimination—A Missing Piece of Speech and Language Development: A Study on 6–9-Year-Old Children with Auditory Processing Disorder.
- Published in:
- Brain Sciences (2076-3425), 2023, v. 13, n. 4, p. 606, doi. 10.3390/brainsci13040606
- By:
- Publication type:
- Article
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease.
- Published in:
- Folia Neuropathologica, 2017, v. 55, n. 2, p. 146, doi. 10.5114/fn.2017.68581
- By:
- Publication type:
- Article
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 853, doi. 10.1007/s10545-017-0057-z
- By:
- Publication type:
- Article
Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 7, p. 1269, doi. 10.3390/diagnostics11071269
- By:
- Publication type:
- Article
Analysis of the auditory processing skills in 1,012 children aged 6–9 confirms the adequacy of APD testing in 6-year-olds.
- Published in:
- PLoS ONE, 2022, v. 17, n. 8, p. 1, doi. 10.1371/journal.pone.0272723
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- Publication type:
- Article
Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
- Published in:
- Human Mutation, 2022, v. 43, n. 3, p. 403, doi. 10.1002/humu.24326
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- Publication type:
- Article
HISTOPATHOLOGICAL LIVER FINDINGS IN PATIENTS WITH HEPATOCEREBRAL MITOCHONDRIAL DEPLETION SYNDROME WITH DEFINED MOLECULAR BASIS.
- Published in:
- Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists, 2019, v. 70, n. 3, p. 224, doi. 10.5114/pjp.2019.90401
- By:
- Publication type:
- Article
HISTOPATHOLOGICAL LIVER FINDINGS IN PATIENTS WITH HEPATOCEREBRAL MITOCHONDRIAL DEPLETION SYNDROME WITH DEFINED MOLECULAR BASIS.
- Published in:
- Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists, 2018, v. 69, n. 3, p. 292, doi. 10.5114/PJP.2018.79549
- By:
- Publication type:
- Article
Bilateral sequential cochlear implantation in a patient with the CAPOS syndrome – postsynaptic auditory neuropathy related to a missense mutation within the ATP1A3 gene.
- Published in:
- Polish Otorhinolaryngological Review / Polski Przegląd Otorynolaryngologiczny (Index Copernicus), 2023, v. 12, n. 2, p. 46, doi. 10.5604/01.3001.0053.6906
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- Publication type:
- Article
Wartości normatywne przesiewowych testów wyższych funkcji słuchowych platformy diagnostyczno-terapeutycznej APD-Medical.
- Published in:
- Otorynolaryngologia, 2016, v. 15, n. 2, p. 99
- By:
- Publication type:
- Article