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Wyszukujesz frazę ""Genetic Counseling"" wg kryterium: Temat


Starter badań:

Tytuł:
The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling.
Autorzy:
Bouassida M; Genetics Department, CHI de Poissy-St Germain en Laye, Poissy, France.
Molina-Gomes D; Genetics Department, CHI de Poissy-St Germain en Laye, Poissy, France.
Koraichi F; Genetics Department, CHI de Poissy-St Germain en Laye, Poissy, France.
Hervé B; Genetics Department, CHI de Poissy-St Germain en Laye, Poissy, France.
Lhuilier M; Genetics Department, CHI de Poissy-St Germain en Laye, Poissy, France.
Duvillier C; Obstetrics Department, CHI de Poissy-St Germain en Laye, Poissy, France.
Le Gall J; Genetics Department, Institut Curie, Paris, France.
Gauthier-Villars M; Genetics Department, Institut Curie, Paris, France.
Serazin V; Genetics Department, CHI de Poissy-St Germain en Laye, Poissy, France.
Quibel T; Obstetrics Department, CHI de Poissy-St Germain en Laye, Poissy, France.
Dard R; Genetics Department, CHI de Poissy-St Germain en Laye, Poissy, France.; RHuMA Team, UMR-BREED, UVSQ, INRAE, ENVA, Montigny le Bretonneux, France.
Vialard F; Genetics Department, CHI de Poissy-St Germain en Laye, Poissy, France.; RHuMA Team, UMR-BREED, UVSQ, INRAE, ENVA, Montigny le Bretonneux, France.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Apr; Vol. 12 (4), pp. e2437.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Counseling*
Chromosome Aberrations*
Pregnancy ; Female ; Humans ; Prenatal Diagnosis ; Chromosome Mapping ; Ubiquitin-Protein Ligases/genetics ; Retinoblastoma Binding Proteins/genetics
Czasopismo naukowe
Tytuł:
Effects of an animated educational video on knowledge of cell-free DNA screening among Thai pregnant women: a randomized control trial.
Autorzy:
Nintao N; Department of Obstetrics & Gynaecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Manonai J; Department of Obstetrics & Gynaecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Wattanayingcharoenchai R; Department of Obstetrics & Gynaecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Bumrungphuet S; Division of Maternal-Fetal Medicine, Department of Obstetrics & Gynaecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Hansahiranwadee W; Division of Maternal-Fetal Medicine, Department of Obstetrics & Gynaecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Dulyaphat W; Division of Maternal-Fetal Medicine, Department of Obstetrics & Gynaecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Somchit W; Division of Maternal-Fetal Medicine, Department of Obstetrics & Gynaecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Wattanasirichaigoon D; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Prakobpanich M; Department of Obstetrics & Gynaecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Tangshewinsirikul C; Division of Maternal-Fetal Medicine, Department of Obstetrics & Gynaecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. .
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Źródło:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2023 Dec 11; Vol. 23 (1), pp. 853. Date of Electronic Publication: 2023 Dec 11.
Typ publikacji:
Randomized Controlled Trial; Journal Article
MeSH Terms:
Pregnant Women*
Genetic Counseling*
Female ; Pregnancy ; Humans ; Thailand ; Counseling ; Educational Status ; Health Knowledge, Attitudes, Practice
Czasopismo naukowe
Tytuł:
Personalising genetic counselling (POETIC) trial: Protocol for a hybrid type II effectiveness-implementation randomised clinical trial of a patient screening tool to improve patient empowerment after cancer genetic counselling.
Autorzy:
Forrest LE; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Locked Bag 1, A'Beckett St, Melbourne, Victoria, 3008, Australia. .; Parkville Familial Cancer Centre & Genomic Medicine, Royal Melbourne Hospital, Parkville, Victoria, Australia. .; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia. .; Department of Medicine, The University of Melbourne, Melbourne, Victoria, Australia. .
Tutty E; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Locked Bag 1, A'Beckett St, Melbourne, Victoria, 3008, Australia.
De Silva AP; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.; Methods and Implementation Support for Clinical and Health (MISCH) research Hub, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Australia.
Petelin L; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Locked Bag 1, A'Beckett St, Melbourne, Victoria, 3008, Australia.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia.; The Daffodil Centre, The University of Sydney, a joint venture with Cancer Council New South Wales, Camperdown, Australia.
Ruscigno A; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Locked Bag 1, A'Beckett St, Melbourne, Victoria, 3008, Australia.; Parkville Familial Cancer Centre & Genomic Medicine, Royal Melbourne Hospital, Parkville, Victoria, Australia.
Purvis R; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Locked Bag 1, A'Beckett St, Melbourne, Victoria, 3008, Australia.; Parkville Familial Cancer Centre & Genomic Medicine, Royal Melbourne Hospital, Parkville, Victoria, Australia.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia.
Monohan K; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Locked Bag 1, A'Beckett St, Melbourne, Victoria, 3008, Australia.; Parkville Familial Cancer Centre & Genomic Medicine, Royal Melbourne Hospital, Parkville, Victoria, Australia.
Kentwell M; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Locked Bag 1, A'Beckett St, Melbourne, Victoria, 3008, Australia.; Parkville Familial Cancer Centre & Genomic Medicine, Royal Melbourne Hospital, Parkville, Victoria, Australia.; Department of Medicine, The University of Melbourne, Melbourne, Victoria, Australia.
Sexton A; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Locked Bag 1, A'Beckett St, Melbourne, Victoria, 3008, Australia.; Parkville Familial Cancer Centre & Genomic Medicine, Royal Melbourne Hospital, Parkville, Victoria, Australia.; Department of Medicine, The University of Melbourne, Melbourne, Victoria, Australia.
Stafford L; Parkville Familial Cancer Centre & Genomic Medicine, Royal Melbourne Hospital, Parkville, Victoria, Australia.; Melbourne School of Psychological Sciences, The University of Melbourne, Melbourne, Victoria, Australia.
James PA; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Locked Bag 1, A'Beckett St, Melbourne, Victoria, 3008, Australia.; Parkville Familial Cancer Centre & Genomic Medicine, Royal Melbourne Hospital, Parkville, Victoria, Australia.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia.; Department of Medicine, The University of Melbourne, Melbourne, Victoria, Australia.
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Źródło:
Trials [Trials] 2023 Nov 08; Vol. 24 (1), pp. 712. Date of Electronic Publication: 2023 Nov 08.
Typ publikacji:
Clinical Trial Protocol; Journal Article
MeSH Terms:
Genetic Counseling*
Neoplasms*/diagnosis
Neoplasms*/genetics
Neoplasms*/therapy
Humans ; Patient Participation ; Early Detection of Cancer/methods ; Counseling/methods ; Victoria ; Randomized Controlled Trials as Topic
Czasopismo naukowe
Tytuł:
The effect of ascertainment on penetrance estimates for rare variants: Implications for establishing pathogenicity and for genetic counselling.
Autorzy:
Paterson AD; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Divisions of Epidemiology and Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
Seok SC; Mathematical Medicine LLC, Chicago, IL, United States of America.
Vieland VJ; Mathematical Medicine LLC, Chicago, IL, United States of America.; Departments of Pediatrics and Biostatistics (Emerita), The Ohio State University, Columbus, OH, United States of America.
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Źródło:
PloS one [PLoS One] 2023 Sep 21; Vol. 18 (9), pp. e0290336. Date of Electronic Publication: 2023 Sep 21 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Counseling*
High-Throughput Nucleotide Sequencing*
Penetrance ; Virulence ; Lod Score
Czasopismo naukowe
Tytuł:
Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.
Autorzy:
Al Yaarubi, Saif (AUTHOR)
Alsagheir, Afaf (AUTHOR)
Al Shidhani, Azza (AUTHOR)
Alzelaye, Somaya (AUTHOR)
Alghazir, Nadia (AUTHOR)
Brema, Imad (AUTHOR)
Alsaffar, Hussain (AUTHOR)
Al Dubayee, Mohammed (AUTHOR)
Alshahrani, Awad (AUTHOR)
Abdelmeguid, Yasmine (AUTHOR)
Omar, Omneya M. (AUTHOR)
Attia, Najya (AUTHOR)
Al Amiri, Elham (AUTHOR)
Al Jubeh, Jamal (AUTHOR)
Algethami, Albandari (AUTHOR)
Alkhayyat, Haya (AUTHOR)
Haleem, Azad (AUTHOR)
Al Yahyaei, Mouza (AUTHOR)
Khochtali, Ines (AUTHOR)
Babli, Saleha (AUTHOR)
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Źródło:
Orphanet Journal of Rare Diseases. 3/13/2024, Vol. 19 Issue 1, p1-15. 15p.
Czasopismo naukowe
Tytuł:
Genetic screening in a Brazilian cohort with inborn errors of immunity.
Autorzy:
Ferreira CS; Bioinformatics Laboratory-LABINFO, National Laboratory of Scientific Computation LNCC/MCTIC, Av. Getúlio Vargas, 333, Quitandinha CEP: 25651-075, Petrópolis, Rio de Janeiro, Brazil.
Francisco Junior RDS; Bioinformatics Laboratory-LABINFO, National Laboratory of Scientific Computation LNCC/MCTIC, Av. Getúlio Vargas, 333, Quitandinha CEP: 25651-075, Petrópolis, Rio de Janeiro, Brazil.
Gerber AL; Bioinformatics Laboratory-LABINFO, National Laboratory of Scientific Computation LNCC/MCTIC, Av. Getúlio Vargas, 333, Quitandinha CEP: 25651-075, Petrópolis, Rio de Janeiro, Brazil.
Guimarães APC; Bioinformatics Laboratory-LABINFO, National Laboratory of Scientific Computation LNCC/MCTIC, Av. Getúlio Vargas, 333, Quitandinha CEP: 25651-075, Petrópolis, Rio de Janeiro, Brazil.
de Carvalho FAA; Allergy and Immunology Service of Institute of Women, Children and Adolescents' Health Fernandes Figueira (IFF/FIOCRUZ), Rio de Janeiro, RJ, Brazil.
Dos Reis BCS; Allergy and Immunology Service of Institute of Women, Children and Adolescents' Health Fernandes Figueira (IFF/FIOCRUZ), Rio de Janeiro, RJ, Brazil.
Pinto-Mariz F; Allergy and Immunology Service of the Martagão Gesteira Institute for Childcare and Pediatrics (IPPMG) - Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil.
de Souza MS; Allergy and Immunology Sector of the Pediatric Service of the Federal Hospital of Rio de Janeiro State (HFSE) - Ministry of Health, Rio de Janeiro, RJ, Brazil.
de Vasconcelos ZFM; Laboratory of High Complexity of the Institute of Women, Children and Adolescents' Health Fernandes Figueira (IFF/FIOCRUZ), Rio de Janeiro, RJ, Brazil.
Goudouris ES; Allergy and Immunology Service of the Martagão Gesteira Institute for Childcare and Pediatrics (IPPMG) - Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil.
Vasconcelos ATR; Bioinformatics Laboratory-LABINFO, National Laboratory of Scientific Computation LNCC/MCTIC, Av. Getúlio Vargas, 333, Quitandinha CEP: 25651-075, Petrópolis, Rio de Janeiro, Brazil. .
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Źródło:
BMC genomic data [BMC Genom Data] 2023 Aug 17; Vol. 24 (1), pp. 47. Date of Electronic Publication: 2023 Aug 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Counseling*
Genetic Testing*
Brazil/epidemiology ; Phenotype ; Gene Frequency
Czasopismo naukowe
Tytuł:
Opt-in for secondary findings as part of diagnostic whole-exome sequencing: Real-life experience from an international diagnostic laboratory.
Autorzy:
Brunfeldt M; Finnish Institute for Health and Welfare, Helsinki, Finland.
Kaare M; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
Saarinen I; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
Koskenvuo J; Blueprint Genetics, a Quest Diagnostics Company, Espoo, Finland.
Kääriäinen H; Finnish Institute for Health and Welfare, Helsinki, Finland.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Aug; Vol. 11 (8), pp. e2180. Date of Electronic Publication: 2023 Apr 06.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Testing*
Genetic Counseling*
Child ; Adult ; Humans ; United States ; Exome Sequencing ; Laboratories ; Exome
Czasopismo naukowe
Tytuł:
Clients' and genetic counselors' perceptions of empathy in Japan: A pilot study of simulated consultations of genetic counseling.
Autorzy:
Tomozawa C; Division of Life Sciences, Department of Genetic Counseling, Graduate School of Humanities and Sciences, Ochanomizu University, Bunkyo-ku, Tokyo, Japan.
Kaneko M; Department of Clinical Genetics, The Jikei University Hospital, Minato-ku, Tokyo, Japan.
Sasaki M; Division of Life Sciences, Department of Genetic Counseling, Graduate School of Humanities and Sciences, Ochanomizu University, Bunkyo-ku, Tokyo, Japan.; Genetics Division, Institute for Human Life Science, Ochanomizu University, Bunkyo-ku, Tokyo, Japan.
Miyake H; Division of Life Sciences, Department of Genetic Counseling, Graduate School of Humanities and Sciences, Ochanomizu University, Bunkyo-ku, Tokyo, Japan.; Genetics Division, Institute for Human Life Science, Ochanomizu University, Bunkyo-ku, Tokyo, Japan.
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Źródło:
PloS one [PLoS One] 2023 Jul 19; Vol. 18 (7), pp. e0288881. Date of Electronic Publication: 2023 Jul 19 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Counseling*/psychology
Counselors*
Humans ; Pilot Projects ; Empathy ; Japan ; Professional-Patient Relations ; Counseling
Czasopismo naukowe
Tytuł:
Using Rasch measurement theory to explore the fitness for purpose of the genetic counseling outcome scale: a tale of two scales.
Autorzy:
Borle K; Faculty of Graduate Studies, Interdisciplinary Studies Program, University of British Columbia, Vancouver, BC, Canada.
Austin J; Faculty of Medicine, Departments of Psychiatry and Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; BC Mental Health & Substance Use Services Research Institute, Vancouver, BC, Canada.
Barbic S; Faculty of Medicine, Department of Occupational Therapy Scientist, Centre for Health Evaluation Outcome Sciences, The University of British Columbia, Vancouver, BC, Canada. .; Faculty of Medicine, Centre for Health Evaluation Outcome Sciences, University of British Columbia, Vancouver, BC, Canada. .
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Źródło:
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation [Qual Life Res] 2023 Mar; Vol. 32 (3), pp. 895-904. Date of Electronic Publication: 2022 Nov 21.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Counseling*
Quality of Life*/psychology
Humans ; Reproducibility of Results ; Surveys and Questionnaires ; Canada
Czasopismo naukowe
Tytuł:
Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature.
Autorzy:
Maddaloni C; Neonatal Intensive Care Unit, 'Bambino Gesù' Children's Hospital IRCCS, Rome, Italy.
Ronci S; Neonatal Intensive Care Unit, 'Bambino Gesù' Children's Hospital IRCCS, Rome, Italy.
De Rose DU; Neonatal Intensive Care Unit, 'Bambino Gesù' Children's Hospital IRCCS, Rome, Italy.
Bersani I; Neonatal Intensive Care Unit, 'Bambino Gesù' Children's Hospital IRCCS, Rome, Italy. .
Campi F; Neonatal Intensive Care Unit, 'Bambino Gesù' Children's Hospital IRCCS, Rome, Italy.
Di Nardo M; Paediatric Intensive Care Unit and ECMO Team, 'Bambino Gesù' Children's Hospital IRCCS, Rome, Italy.
Stoppa F; Paediatric Intensive Care Unit and ECMO Team, 'Bambino Gesù' Children's Hospital IRCCS, Rome, Italy.
Adorisio R; Heart Failure, Transplant and Mechanical Cardiocirculatory Support Unit, Department of Paediatric Cardiology and Cardiac Surgery, Heart Lung Transplantation, ERN GUARD HEART, 'Bambino Gesù' Children's Hospital IRCCS, Rome, Italy.
Amodeo A; Heart Failure, Transplant and Mechanical Cardiocirculatory Support Unit, Department of Paediatric Cardiology and Cardiac Surgery, Heart Lung Transplantation, ERN GUARD HEART, 'Bambino Gesù' Children's Hospital IRCCS, Rome, Italy.
Toscano A; Perinatal Cardiology Unit, 'Bambino Gesù' Children's Hospital IRCCS, Rome, Italy.
Digilio MC; Medical Genetics Unit, 'Bambino Gesù' Children's Hospital IRCCS, Rome, Italy.
Novelli A; Translational Cytogenomics Unit, Multimodal Medicine Research Area, 'Bambino Gesù' Children's Hospital IRCCS, Rome, Italy.
Chello G; Neonatal Intensive Care Unit, Monaldi Hospital, Naples, Italy.
Braguglia A; Neonatal Intensive Care Unit, 'Bambino Gesù' Children's Hospital IRCCS, Rome, Italy.
Dotta A; Neonatal Intensive Care Unit, 'Bambino Gesù' Children's Hospital IRCCS, Rome, Italy.
Calzolari F; Neonatal Intensive Care Unit, 'Bambino Gesù' Children's Hospital IRCCS, Rome, Italy.
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Źródło:
Italian journal of pediatrics [Ital J Pediatr] 2024 Mar 05; Vol. 50 (1), pp. 41. Date of Electronic Publication: 2024 Mar 05.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Hypertension, Pulmonary*/diagnosis
Hypertension, Pulmonary*/genetics
Infant, Newborn ; Pregnancy ; Humans ; Female ; Genetic Counseling ; High-Throughput Nucleotide Sequencing ; Mutation ; T-Box Domain Proteins/genetics
Czasopismo naukowe
Tytuł:
Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies.
Autorzy:
Jolfayi AG; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Kohansal E; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Ghasemi S; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Naderi N; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Hesami M; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
MozafaryBazargany M; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Moghadam MH; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Fazelifar AF; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Maleki M; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Kalayinia S; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran. .
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Źródło:
Scientific reports [Sci Rep] 2024 Mar 04; Vol. 14 (1), pp. 5313. Date of Electronic Publication: 2024 Mar 04.
Typ publikacji:
Review; Journal Article
MeSH Terms:
Cardiomyopathies*/genetics
Humans ; Connectin/genetics ; Early Intervention, Educational ; Genetic Counseling ; Genetic Testing
Czasopismo naukowe
Tytuł:
De novo KAT6B mutation causes Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome in an Iranian boy: a case report.
Autorzy:
Davarnia, Behzad (AUTHOR)
Panahi, Mohammad (AUTHOR)
Rahimi, Bahareh (AUTHOR)
Anari, Hassan (AUTHOR)
Farajollahi, Reza (AUTHOR)
Rodbaneh, Ehsan Abbaspour (AUTHOR)
Jeddi, Farhad (AUTHOR)
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Źródło:
Journal of Medical Case Reports. 1/5/2024, Vol. 18 Issue 1, p1-7. 7p.
Czasopismo naukowe

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