Detalhe da pesquisa
1.
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Hepatology
; 79(5): 1075-1087, 2024 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37976411
2.
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Brain
; 145(5): 1624-1631, 2022 06 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35148383
3.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
; 43(3): 403-419, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34989426
4.
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Am J Hum Genet
; 102(3): 460-467, 2018 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29429571
5.
Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.
J Hum Genet
; 63(4): 473-485, 2018 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-29410512
6.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Ann Neurol
; 82(6): 1004-1015, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-29205472
7.
Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?
Metab Brain Dis
; 33(1): 191-199, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29116603
8.
Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis.
Pol J Pathol
; 69(3): 292-298, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30509056
9.
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
J Inherit Metab Dis
; 40(6): 853-860, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28687938
10.
Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences.
Med Sci Monit
; 21: 694-700, 2015 Mar 06.
Artigo
Inglês
| MEDLINE | ID: mdl-25744662
11.
Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis.
Pol J Pathol
; 70(3): 224-225, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31820868
12.
Auditory Discrimination-A Missing Piece of Speech and Language Development: A Study on 6-9-Year-Old Children with Auditory Processing Disorder.
Brain Sci
; 13(4)2023 Apr 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37190571
13.
Analysis of the auditory processing skills in 1,012 children aged 6-9 confirms the adequacy of APD testing in 6-year-olds.
PLoS One
; 17(8): e0272723, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35980890
14.
Long-term outcome of patients with alpha-mannosidosis - A single center study.
Mol Genet Metab Rep
; 30: 100826, 2022 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-35242565
15.
Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism.
Int J Pediatr Otorhinolaryngol
; 151: 110970, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34775139
16.
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.
Diagnostics (Basel)
; 11(7)2021 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-34359351
17.
Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland.
Int J Pediatr Otorhinolaryngol
; 121: 143-149, 2019 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-30909120
18.
Balance control of children and adolescents suffering from vertigo symptoms: in what way posturography is helpful in clinical evaluation of vestibular system pathology?
Acta Bioeng Biomech
; 21(1): 73-78, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31197286
19.
Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype.
Clin Dysmorphol
; 28(3): 126-130, 2019 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-30921088
20.
[Analysis of specificity and sensitivity of Polish "Universal Newborn Hearing Screening Program"]. / Analiza czulosci i swoistosci ogólnopolskiego "Programu przesiewowych badan sluchu u noworodków".
Otolaryngol Pol
; 62(1): 88-95, 2008.
Artigo
Polonês
| MEDLINE | ID: mdl-18637428