Detalhe da pesquisa
1.
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
Cell Mol Life Sci
; 79(6): 305, 2022 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35593933
2.
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
3.
Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients.
Pancreatology
; 21(8): 1434-1442, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34538581
4.
Ectodermal dysplasias molecular mechanisms responsible for occurrence of most frequent syndroms / Dysplazje ektodermalne mechanizmy molekularne odpowiedzialne za wystepowanie najczestszych zespolów chorobowych.
Postepy Biochem
; 67(3): 248-258, 2021 09 30.
Artigo
em Polonês
| MEDLINE | ID: mdl-34894390
5.
Efficacy of gentamicin 0.3% solution of oral erosions healing in patients with severe generalized recessive dystrophic epidermolysis bullosa and its impact on the expression of type VII collagen.
Postepy Dermatol Alergol
; 38(6): 979-984, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35126004
6.
Bullous diseases caused by KRT1 gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplex.
Postepy Dermatol Alergol
; 38(6): 1032-1038, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35126011
7.
The analysis of echocardiographic results in patients suffering from epidermolysis bullosa.
Postepy Dermatol Alergol
; 37(6): 871-878, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33603603
8.
A novel de novo mutation p.Ala428Asp in KRT5 gene as a cause of localized epidermolysis bullosa simplex.
Exp Dermatol
; 28(10): 1131-1134, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30240119
9.
The hybrid allele 1 of carboxyl-ester lipase (CEL-HYB1) in Polish pediatric patients with chronic pancreatitis.
Pancreatology
; 19(4): 531-534, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31036489
10.
[Genodermatoses - pathogenesis and molecular diagnostics]. / Genodermatozy patogeneza i diagnostyka molekularna.
Postepy Biochem
; 64(4): 351-358, 2018 Dec 29.
Artigo
em Polonês
| MEDLINE | ID: mdl-30656920
11.
Chymotrypsinogen C Genetic Variants, Including c.180TT, Are Strongly Associated With Chronic Pancreatitis in Pediatric Patients.
J Pediatr Gastroenterol Nutr
; 65(6): 652-657, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28968289
12.
The clinical course of hereditary pancreatitis in children - A comprehensive analysis of 41 cases.
Pancreatology
; 16(4): 535-41, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27179762
13.
The Etiology and Clinical Course of Chronic Pancreatitis in Children With Early Onset of the Disease.
J Pediatr Gastroenterol Nutr
; 63(6): 665-670, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27673710
14.
[Epidermal barrier - molecular structure and disorders in selected ichthyoses]. / Struktura molekularna bariery naskórkowej i jej zaburzenia w wybranych chorobach z grupy rybiej luski.
Postepy Biochem
; 62(1): 36-45, 2016.
Artigo
em Polonês
| MEDLINE | ID: mdl-28132443
15.
Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitis.
Hum Mutat
; 36(3): 350-6, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25546417
16.
Genetic analysis in inherited metabolic disorders--from diagnosis to treatment. Own experience, current state of knowledge and perspectives.
Dev Period Med
; 19(4): 413-31, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26982749
17.
CHRONIC PANCREATITIS IN A PATIENT WITH THE p.Asn34Ser HOMOZYGOUS SPINK1 MUTATION--OWN EXPERIENCE.
Dev Period Med
; 19(3 Pt 2): 347-50, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26958679
18.
Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype.
Exp Dermatol
; 23(9): 684-7, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24981776
19.
Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations.
Acta Derm Venereol
; 99(13): 1309-1310, 2019 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31513275
20.
[Cystic fibrosis emerging therapies].
Dev Period Med
; 18(2): 256-65, 2014.
Artigo
em Polonês
| MEDLINE | ID: mdl-25182267