Detalhe da pesquisa
1.
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
J Med Genet
; 60(10): 1026-1034, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197783
2.
A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder.
BMC Pediatr
; 24(1): 47, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38225558
3.
Thrombus Distribution in Vaccine-induced Immune Thrombotic Thrombocytopenia after ChAdOx1 nCov-19 Vaccination.
Radiology
; 305(3): 590-596, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35699579
4.
Fatal thrombolysis-related intracerebral haemorrhage associated with amyloid-ß-related angiitis in a middle-aged patient - case report and literature review.
BMC Neurol
; 22(1): 500, 2022 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36564732
5.
Cerebral venous sinus thrombosis and thrombocytopenia after COVID-19 vaccination - A report of two UK cases.
Brain Behav Immun
; 95: 514-517, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33857630
7.
Cerebrovascular manifestations of herpes simplex virus infection of the central nervous system: a systematic review.
J Neuroinflammation
; 16(1): 19, 2019 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30696448
8.
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
Am J Hum Genet
; 97(2): 311-8, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26166481
9.
Neutrophil to lymphocyte ratio predicts intracranial hemorrhage after endovascular thrombectomy in acute ischemic stroke.
J Neuroinflammation
; 15(1): 319, 2018 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30442159
10.
Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability.
J Hum Genet
; 63(11): 1189-1193, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30181650
11.
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Brain
; 140(10): 2610-2622, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969385
12.
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Nat Genet
; 40(9): 1113-8, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18711368
13.
The critical distinction between characterisation and causation in studies of COVID-19-associated cerebrovascular pathology.
Brain Behav Immun
; 91: 790-791, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33197544
14.
Intracerebral haemorrhage and COVID-19: Clinical characteristics from a case series.
Brain Behav Immun
; 88: 940-944, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32525049
15.
Clinical presentation and outcome in a series of 88 patients with the cblC defect.
J Inherit Metab Dis
; 37(5): 831-40, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24599607
16.
High Prevalence of New Clinically Significant Findings in Patients With Embolic Stroke of Unknown Source Evaluated by Cardiac Magnetic Resonance Imaging.
J Am Heart Assoc
; 13(3): e031489, 2024 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38240222
17.
Birth prevalence of neural tube defects: a population-based study in South-Eastern Hungary.
Childs Nerv Syst
; 29(4): 621-7, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23108919
18.
Aspirin and clopidogrel resistance: possible mechanisms and clinical relevance. Part II: Potential causes and laboratory tests.
Ideggyogy Sz
; 66(1-2): 15-22, 2013 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-23607225
19.
Congenital myasthenic syndromes and transient myasthenia gravis.
Ideggyogy Sz
; 66(5-6): 200-3, 2013 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-23909021
20.
A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy.
Child Neurol Open
; 10: 2329048X231176673, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37284702