Search details
1.
Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series.
Int J Mol Sci
; 24(2)2023 Jan 06.
Article
in English
| MEDLINE | ID: mdl-36674629
2.
Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss.
J Assist Reprod Genet
; 39(2): 357-367, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-35079943
3.
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.
Int J Mol Sci
; 23(2)2022 Jan 08.
Article
in English
| MEDLINE | ID: mdl-35054877
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.
Article
in Polish
| MEDLINE | ID: mdl-34894390
5.
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
Hum Mol Genet
; 27(4): 589-600, 2018 02 15.
Article
in English
| MEDLINE | ID: mdl-29267967
6.
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.
Article
in English
| MEDLINE | ID: mdl-30240119
7.
MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease.
Am J Med Genet A
; 176(7): 1670-1674, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29799162
8.
[Fragile X syndrome and FMR1-dependent diseases - diagnostic scheme based on own experience .]
Dev Period Med
; 22(1): 22-32, 2018.
Article
in Polish
| MEDLINE | ID: mdl-29641418
9.
[Fragile X syndrome and FMR1-dependent diseases - clinical presentation, epidemiology and molecular background].
Dev Period Med
; 22(1): 14-21, 2018.
Article
in Polish
| MEDLINE | ID: mdl-29641417
10.
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.
Article
in English
| MEDLINE | ID: mdl-28968289
11.
The clinical course of hereditary pancreatitis in children - A comprehensive analysis of 41 cases.
Pancreatology
; 16(4): 535-41, 2016.
Article
in English
| MEDLINE | ID: mdl-27179762
12.
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.
Article
in English
| MEDLINE | ID: mdl-27673710
13.
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.
Article
in English
| MEDLINE | ID: mdl-25546417
14.
Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting.
Cleft Palate Craniofac J
; 52(5): e161-7, 2015 09.
Article
in English
| MEDLINE | ID: mdl-25489771
15.
From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit.
Neurol Neurochir Pol
; 49(4): 258-66, 2015.
Article
in English
| MEDLINE | ID: mdl-26188943
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.
Article
in English
| 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.
Article
in English
| MEDLINE | ID: mdl-26958679
18.
Intrafamilial variability of the primary dystonia DYT6 phenotype caused by p.Cys5Trp mutation in THAP1 gene.
Neurol Neurochir Pol
; 48(4): 254-7, 2014.
Article
in English
| MEDLINE | ID: mdl-25168324
19.
[Non-invasive genetic prenatal diagnosis. Analysis of nucleic acids of foetal origin present in maternal vascular system].
Dev Period Med
; 18(2): 247-55, 2014.
Article
in Polish
| MEDLINE | ID: mdl-25182266
20.
[Cystic fibrosis emerging therapies].
Dev Period Med
; 18(2): 256-65, 2014.
Article
in Polish
| MEDLINE | ID: mdl-25182267