Detalhe da pesquisa
1.
IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB-Induced Inflammation.
J Clin Immunol
; 43(2): 421-439, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36319802
2.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genet Med
; 25(1): 37-48, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322149
3.
The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology.
Int J Mol Sci
; 24(11)2023 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37298411
4.
PIGN encephalopathy: Characterizing the epileptology.
Epilepsia
; 63(4): 974-991, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179230
5.
Pharmacological chaperone therapy for the treatment of inborn errors of metabolism / Stosowanie farmakologicznych chaperonów w leczeniu wrodzonych chorób metabolicznych.
Postepy Biochem
; 68(3): 255-263, 2022 09 30.
Artigo
em Polonês
| MEDLINE | ID: mdl-36317990
6.
Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.
Clin Genet
; 98(5): 468-476, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32725661
7.
Lessons learned from 40 novel PIGA patients and a review of the literature.
Epilepsia
; 61(6): 1142-1155, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32452540
8.
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
PLoS Genet
; 13(3): e1006683, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28346496
9.
Post-Translational Modifications of Circulating Alpha-1-Antitrypsin Protein.
Int J Mol Sci
; 21(23)2020 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33276468
10.
Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series.
Int J Mol Sci
; 21(12)2020 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32604955
11.
FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy.
Clin Genet
; 96(3): 274-275, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31292943
12.
The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.
Muscle Nerve
; 59(1): 129-133, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30230566
13.
Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
Metab Brain Dis
; 34(2): 641-649, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30570710
14.
Implementation of the web-based calculator estimating odds ratio of severe COVID-19 for unvaccinated individuals in a country with high coronavirus-related death toll.
Allergy
; 78(1): 311-314, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36129377
15.
Genetics of fetal growth restriction-Isolated is not syndromic: Comments on the paper entitled "Genetic syndromes associated with isolated fetal growth restriction" published in Prenatal Diagnosis, DOI: 10.1002/pd.5635.
Prenat Diagn
; 41(1): 6-7, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32080855
16.
Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.
Ginekol Pol
; 87(10): 706-710, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27958623
17.
Infectious and immunologic phenotype of MECP2 duplication syndrome.
J Clin Immunol
; 35(2): 168-81, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25721700
18.
Is leucodystrophy really a feature of PIGT-CDG?
Neuropathol Appl Neurobiol
; 46(6): 615-616, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32058618
19.
Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome.
Ginekol Pol
; 86(8): 598-602, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26492708
20.
Polish activity within Orphanet Europe--state of art of database and services.
Dev Period Med
; 19(4): 536-41, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26982769