Detalhe da pesquisa
1.
Molecular Dynamics of Steroidal Rotors Probed by Theoretical, Spectroscopic and Dielectric Methods.
Chemistry
; 30(20): e202303933, 2024 Apr 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38311598
2.
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.
Mol Genet Metab
; 140(3): 107674, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37542768
3.
Clinical and radiological description of 120 pediatric stroke-like episodes.
Eur J Neurol
; 30(7): 2051-2061, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37046408
4.
Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia.
Brain
; 145(10): 3374-3382, 2022 10 21.
Artigo
Inglês
| MEDLINE | ID: mdl-35714222
5.
Influence of sustainable packaging material and packaging conditions on physicochemical, microbiological, and sensorial properties of cheeses.
J Dairy Sci
; 106(12): 8504-8522, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37641356
6.
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes.
J Med Genet
; 58(11): 737-742, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32928894
7.
Value of short exercise and short exercise with cooling tests in diagnosis of recessive form of myotonia congenita (Becker disease) - are sex differences important?
Neurol Neurochir Pol
; 56(5): 399-403, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35792560
8.
Novel approach to antiangiogenic factors in age-related macular degeneration therapy.
Cent Eur J Immunol
; 47(1): 117-123, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35600160
9.
Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.
Genet Med
; 23(5): 968-971, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33500571
10.
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Epilepsia
; 62(2): 325-334, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33410528
11.
De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures.
J Med Genet
; 57(2): 138-144, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31439720
12.
New perspectives of immunomodulation and neuroprotection in glaucoma.
Cent Eur J Immunol
; 46(1): 105-110, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33897291
13.
Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.
Mol Genet Metab
; 130(2): 110-117, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32273051
14.
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.
Brain
; 142(10): 2996-3008, 2019 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31532509
15.
Children and adolescents with epilepsy in rehabilitation centers: A French prospective transversal study.
Epilepsy Behav
; 104(Pt A): 106898, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31986442
16.
Social and emotional intelligence as a basis for communicative resource formation in family caregivers of patients with endogenous mental disorders.
Wiad Lek
; 73(1): 107-112, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32124818
17.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(4): 837-849, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30206421
18.
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(8): 1897-1898, 2019 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-30279470
19.
Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures.
Epilepsia
; 60(1): 20-32, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30525185
20.
Screening for late-onset Pompe disease in Poland.
Acta Neurol Scand
; 140(4): 239-243, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-31125121