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Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?
- Published in:
- 2018
- By:
- Publication type:
- journal article
Traditional and New Methods of Bone Age Assessment-An Overview.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 3, p. 251, doi. 10.4274/jcrpe.galenos.2020.2020.0091
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- Publication type:
- Article
CONGENITAL INTRAMEDULLARY SPINAL CORD TUMOURS: A REPORT OF TWO CASES.
- Published in:
- Developmental Period Medicine, 2011, v. 15, n. 4, p. 458
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- Publication type:
- Article
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 1, p. 22, doi. 10.1111/j.1528-1167.2010.02892.x
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- Publication type:
- Article
Evaluation of differential renal function in children – a comparative study between magnetic resonance urography and dynamic renal scintigraphy.
- Published in:
- BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-024-04694-2
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- Publication type:
- Article
Germinoma Mimicking Brain Inflammation: A Case Report.
- Published in:
- Child Neurology Open, 2019, v. 6, n. 7, p. N.PAG, doi. 10.1177/2329048X19848181
- By:
- Publication type:
- Article
Germinoma Mimicking Brain Inflammation: A Case Report.
- Published in:
- Child Neurology Open, 2019, v. 6, p. N.PAG, doi. 10.1177/2329048X19848181
- By:
- Publication type:
- Article
Giant intracranial aneurysm in a 9-year-old boy with tuberous sclerosis.
- Published in:
- 2006
- By:
- Publication type:
- journal article
MRI of a family with leukoencephalypathy with vanishing white matter.
- Published in:
- 2005
- By:
- Publication type:
- journal article
MR imaging, apparent diffusion coefficient and histopathological features of desmoplastic infantile tumors-own experience and review of the literature.
- Published in:
- Child's Nervous System, 2015, v. 31, n. 2, p. 251, doi. 10.1007/s00381-014-2593-2
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- Publication type:
- Article
Congenital brain tumors in a series of 56 patients.
- Published in:
- Child's Nervous System, 2012, v. 28, n. 8, p. 1193, doi. 10.1007/s00381-012-1798-5
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- Publication type:
- Article
Trilateral retinoblastoma: an institutional experience and review of the literature.
- Published in:
- Child's Nervous System, 2010, v. 26, n. 1, p. 129, doi. 10.1007/s00381-009-0958-8
- By:
- Publication type:
- Article
Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
- Published in:
- Metabolic Brain Disease, 2019, v. 34, n. 2, p. 641, doi. 10.1007/s11011-018-0357-5
- 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
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- Publication type:
- Article
MAGNETIC RESONANCE IMAGING IN ORTHODONTIC PATIENTS: Guidelines of the Polish Orthodontic Society (PTO), the Polish Medical Radiological Society (PLTR), and the Polish Dental Association (PTS).
- Published in:
- Journal of Stomatology, 2024, v. 77, n. 1, p. 1, doi. 10.5114/jos.2019.86484
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- Publication type:
- Article
MAGNETIC RESONANCE IMAGING IN ORTHODONTIC PATIENTS: Guidelines of the Polish Orthodontic Society (PTO), the Polish Medical Radiological Society (PLTR), and the Polish Dental Association (PTS).
- Published in:
- Journal of Stomatology, 2023, v. 76, n. 2, p. 1, doi. 10.5114/jos.2019.86484
- By:
- Publication type:
- Article
Left and Right Ventricular Morphology, Function and Myocardial Deformation in Children with Left Ventricular Non-Compaction Cardiomyopathy: A Case-Control Cardiovascular Magnetic Resonance Study.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 4, p. N.PAG, doi. 10.3390/jcm11041104
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- Publication type:
- Article
NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy.
- Published in:
- Metabolic Brain Disease, 2021, v. 36, n. 7, p. 2169, doi. 10.1007/s11011-021-00827-z
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- Publication type:
- Article
Quantitative MR in Paediatric Patients with Wilson Disease: A Case Series Review.
- Published in:
- Children, 2022, v. 9, n. 5, p. 613, doi. 10.3390/children9050613
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- Publication type:
- Article
Virginal breast hypertrophy in a patient with Beckwith–Wiedemann syndrome.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Single Nucleotide Polymorphisms of Interleukins and Toll-like Receptors and Neuroimaging Results in Newborns with Congenital HCMV Infection.
- Published in:
- Viruses (1999-4915), 2021, v. 13, n. 9, p. 1783, doi. 10.3390/v13091783
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- Publication type:
- 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
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- Publication type:
- Article
Angiocentric glioma: a rare intractable epilepsy-related tumour in children.
- Published in:
- Folia Neuropathologica, 2014, v. 52, n. 3, p. 253, doi. 10.5114/fn.2014.45566
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- Publication type:
- Article
"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation.
- Published in:
- Folia Neuropathologica, 2013, v. 51, n. 4, p. 347, doi. 10.5114/fn.2013.39726
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- Publication type:
- Article
Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomas.
- Published in:
- Folia Neuropathologica, 2011, v. 49, n. 1, p. 39
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- Publication type:
- Article
Teratoma or enterogenous cyst? The histopathological and clinical dilemma in co-existing occult neural tube dysraphism.
- Published in:
- Folia Neuropathologica, 2006, v. 44, n. 1, p. 24
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- Publication type:
- Article
Arterial hypertension with brachydactyly in a 15-year-old boy.
- Published in:
- Pediatric Nephrology, 2003, v. 18, n. 8, p. 814, doi. 10.1007/s00467-003-1169-2
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- Publication type:
- Article
Paediatric Cushing's disease -- a literature review of epidemiology, pathogenesis, clinical symptoms, and diagnostics.
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- Polish Journal of Endocrinology / Endokrynologia Polska, 2020, v. 71, n. 1, p. 87, doi. 10.5603/EP.a2019.0040
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- Publication type:
- Article
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Cervical Spine MRI Findings in Patients with Mucopolysaccharidosis Type II.
- Published in:
- Pediatric Neurosurgery, 2015, v. 50, n. 1, p. 26, doi. 10.1159/000371658
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- Publication type:
- Article
Spinal Cord Compression in Maroteaux-Lamy Syndrome: Case Report and Review of the Literature with Effects of Enzyme Replacement Therapy.
- Published in:
- Pediatric Neurosurgery, 2013, v. 48, n. 3, p. 191, doi. 10.1159/000345635
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- Publication type:
- Article
DCDC2 -Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases.
- Published in:
- Diagnostics (2075-4418), 2023, v. 13, n. 11, p. 1917, doi. 10.3390/diagnostics13111917
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- 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
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- Publication type:
- Article
Abnormalities of the biliary tract in patients with autosomal recessive polycystic kidney disease (ARPKD).
- Published in:
- Polish Journal of Pediatrics / Pediatria Polska, 2020, v. 95, n. 4, p. 207, doi. 10.5114/POLP.2020.103463
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- Publication type:
- Article
Vigabatrin -- new data on indications and safety in paediatric epilepsy.
- Published in:
- Polish Journal of Neurology & Neurosurgery / Neurologia i Neurochirurgia Polska, 2021, v. 55, n. 5, p. 429, doi. 10.5603/PJNNS.a2021.0063
- By:
- Publication type:
- Article
Ectopic virilising adrenocortical tumour in the spinal region in an 8 year-old boy: a case report and review of the literature.
- Published in:
- Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 1, doi. 10.1186/s13052-015-0169-8
- By:
- Publication type:
- Article
Contrast enhancement pattern predicts poor survival for patients with non-WNT/SHH medulloblastoma tumours.
- Published in:
- Journal of Neuro-Oncology, 2015, v. 123, n. 1, p. 65, doi. 10.1007/s11060-015-1779-0
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- Publication type:
- Article
Czaszkogardlak - epidemiologia, patogeneza, diagnostyka klinicznych i obrazowa.
- Published in:
- Pediatric Endocrinology / Endokrynologia Pediatryczna, 2017, v. 16, n. 3, p. 205, doi. 10.18544/EP-01.16.03.1676
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- Publication type:
- Article
Ziarniszczak jajnika u 15-letniej pacjentki wcześniej leczonej z powodu guza mózgu.
- Published in:
- Pediatric Endocrinology / Endokrynologia Pediatryczna, 2017, v. 16, n. 1, p. 55, doi. 10.18544/EP-01.16.01.1664
- By:
- Publication type:
- Article
Hajdu-Cheney syndrome: the first case report in Poland?
- Published in:
- Polish Archives of Internal Medicine, 2021, v. 131, n. 6, p. 571, doi. 10.20452/pamw.15981
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- Publication type:
- Article