المؤلفون: Romana Borská, Blanka Pinková, Kamila Réblová, Hana Bučková, Lenka Kopečková, Jitka Němečková, Alena Puchmajerová, Marcela Malíková, Markéta Hermanová, Lenka Fajkusová

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)

مصطلحات موضوعية: Autosomal recessive congenital ichthyosis, Keratinopathic ichthyosis, In silico analysis, 3D protein structure, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1076-7; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/43bc9ac616384e6fadfac80169ee5993

المؤلفون: Dagmar Procházková, Romana Borská, Lenka Fajkusová, Petra Konečná, Eliška Hloušková, Zdeněk Pavlovský, Ondřej Slabý, Šárka Pospíšilová

المصدر: Diagnostics; Volume 11; Issue 6; Pages: 983

مصطلحات موضوعية: Alagille syndrome, JAG1 gene, pediatric patients, cholestasis

وصف الملف: application/pdf

Relation: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics11060983

الاتاحة: https://doi.org/10.3390/diagnostics11060983

المؤلفون: Lucie Dušková, Lucie Nohelová, Tomáš Loja, Jana Fialová, Petra Zapletalová, Kamila Réblová, Lukáš Tichý, Tomáš Freiberger, Lenka Fajkusová

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: low density lipoprotein receptor, live cell imaging microscopy, flow cytometry, functional analysis, ER stress, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.00691/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/e0b1b4537abe45e4844fcda7349ffdb8

المؤلفون: Jitka Jirečková, Martin Magner, Lukáš Lambert, Alice Baxová, Alena Leiská, Lenka Kopečková, Lenka Fajkusová, Jiří Zeman

المصدر: Prague Medical Report, Vol 119, Iss 4, Pp 156-164 (2019)

مصطلحات موضوعية: Hajdu-Cheney syndrome, Short stature, Wormian bones, Acro-osteolysis, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://pmr.lf1.cuni.cz/119/4/0156/; https://doaj.org/toc/1214-6994; https://doaj.org/toc/2336-2936

URL الوصول: https://doaj.org/article/cf1ef337f8de42a18065d77f4b96c5e3

المؤلفون: Magdalena Mroczek, Inna Inashkina, Janis Stavusis, Pawel Zayakin, Andrey Khrunin, Ieva Micule, Victorija Kenina, Anna Zdanovica, Jana Zídková, Lenka Fajkusová, Svetlana Limborska, Anneke J. van der Kooi, Esther Brusse, Lea Leonardis, Ales Maver, Sander Pajusalu, Katrin Õunap, Sanna Puusepp, Paula Dobosz, Mateusz Sypniewski, Birute Burnyte, Baiba Lace

المساهمون: Neurology, ANS - Neuroinfection & -inflammation, EURO-NMD

المصدر: Human mutation, 43(10), 1347-1353. Wiley-Liss Inc.
Human Mutation, 43(10), 1347-1353. Wiley-Liss Inc.

مصطلحات موضوعية: Muscular Dystrophies, Limb-Girdle, CAPN3, Calpain, RNA Splicing, Mutation, Genetics, Humans, Muscle Proteins, LGMD R1 calpain 3-related, hypomorphic variant, Genetics (clinical), LGMD, calpainopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6473aff6ee811641d344ebecedcea42c
http://www.scopus.com/inward/record.url?scp=85132317495&partnerID=8YFLogxK

المؤلفون: Blanka Pinkova, Hana Buckova, Romana Borska, Lenka Fajkusova

المصدر: Biomedical Papers, Vol 164, Iss 4, Pp 357-365 (2020)

مصطلحات موضوعية: ichthyosis, diagnostics, molecular analysis of dna, therapy, Medicine

Relation: https://biomed.papers.upol.cz/artkey/bio-202004-0002_types-of-congenital-nonsyndromic-ichthyoses.php; https://doaj.org/toc/1213-8118; https://doaj.org/toc/1804-7521; https://doaj.org/article/7fa64350f8b04136a7aa3025760df136

الاتاحة: https://doi.org/10.5507/bp.2020.050
https://doaj.org/article/7fa64350f8b04136a7aa3025760df136

المؤلفون: Lenka Fajkusová, Jana Zídková

المصدر: Neurologie pro praxi. 23:50-53

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9cb122ba5e1a8a2a740a156af695d8cc
https://doi.org/10.36290/neu.2021.071

المؤلفون: Dagmar Procházková, Romana Borská, Petr Chrastina, Lenka Fajkusová, Petra Konečná, Kateřina Slabá, Jan Šenkyřík, Karolína Pešková, Petr Jabandžiev, Tomáš Honzík

المصدر: Česká a slovenská neurologie a neurochirurgie.

مصطلحات موضوعية: Surgery, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e623fc23afff0bb21509dc03f86f1130
https://doi.org/10.48095/cccsnn202383

المؤلفون: Jana Zídková, Lenka Fajkusová

المصدر: Neurologie pro praxi. 22:100-103

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::54728a299924badd1f5502b14dd8a035
https://doi.org/10.36290/neu.2020.107

المؤلفون: Michal Růžička, Petr Kulhánek, Lenka Radová, Andrea Čechová, Naďa Špačková, Lenka Fajkusová, Kamila Réblová

المصدر: PLoS ONE, Vol 12, Iss 8, p e0182377 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5540541?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/520bf99ba6044357bd31f8fb15b851ac

المؤلفون: Lenka Fajkusová, Blanka Pinková, Hana Bučková, Romana Borská

المصدر: Biomedical Papers, Vol 164, Iss 4, Pp 357-365 (2020)

مصطلحات موضوعية: Male, medicine.medical_specialty, Skin barrier, Ichthyosis, X-Linked, Adolescent, Genetic counseling, lcsh:Medicine, 030204 cardiovascular system & hematology, Gene mutation, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, medicine, diagnostics, Humans, Genetic Predisposition to Disease, Neonatology, Child, Molecular Biology, therapy, Ichthyosis, business.industry, lcsh:R, Age Factors, Infant, Newborn, Infant, Geneticist, Ichthyosiform Erythroderma, Congenital, medicine.disease, Dermatology, Scaling skin, 3. Good health, Molecular analysis, molecular analysis of dna, 030220 oncology & carcinogenesis, Child, Preschool, Mutation, Female, ichthyosis, Symptom Assessment, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4babd5db5a064859c8fa2abe7323de44
https://biomed.papers.upol.cz/artkey/bio-202004-0002_types-of-congenital-nonsyndromic-ichthyoses.php

المؤلفون: Petra Hedvicakova, Kateřina Machová, Marie Rohlenová, Jitka Venclová-Žáčková, Jana Haberlová, Jakub Zieg, Veronika Stará, Tereza Doušová, Ondřej Souček, Lenka Fajkusová

المصدر: Česká a slovenská neurologie a neurochirurgie. :305-314

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Cohort, Medicine, Surgery, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ac8213457648cbc78f1957575d1bf374
https://doi.org/10.14735/amcsnn2020305

المؤلفون: Martina Klincová, Dagmar Štěpánková, Ivana Schröderová, Eva Klabusayová, Edita Ošťádalová, Iveta Valášková, Lenka Fajkusová, Jana Zídková, Renata Gaillyová, Petr Štourač

المصدر: British journal of anaesthesia. 129(2)

مصطلحات موضوعية: Slovakia, Anesthesiology and Pain Medicine, Calcium Channels, L-Type, Mutation, Humans, Ryanodine Receptor Calcium Release Channel, Malignant Hyperthermia, Czech Republic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f0682648fba8951d6967a527c6b0f12
https://pubmed.ncbi.nlm.nih.gov/35718563

المؤلفون: Ondřej Horák, Martina Burešová, Senad Kolář, Klára Španělová, Barbora Jeřábková, Renata Gaillyová, Katarína Česká, Kamila Réblová, Jana Šoukalová, Jana Zídková, Lenka Fajkusová, Hana Ošlejšková, Ivan Rektor, Pavlína Danhofer

المصدر: Epilepsybehavior : EB. 128

مصطلحات موضوعية: Male, Epilepsy, DNA Copy Number Variations, High-Throughput Nucleotide Sequencing, Behavioral Neuroscience, Phenotype, Neurology, Mutation, Humans, Female, Neurology (clinical), Genetic Testing, Genetic Association Studies, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f018e4bcd84b9d3d81d897a4a67fa80
https://pubmed.ncbi.nlm.nih.gov/35065395

المؤلفون: Jana, Zídková, Jana, Haberlová, Tereza, Kramářová, Lenka, Fajkusová

المصدر: Ceskoslovenska patologie. 57(3)

مصطلحات موضوعية: High-Throughput Nucleotide Sequencing, Humans, Neuromuscular Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::4a9755cf793b4bd7a3ecfa189dd08909
https://pubmed.ncbi.nlm.nih.gov/34551563

المؤلفون: Jana Zídková, Lenka Fajkusová

المصدر: Neurologie pro praxi. 20:339-343

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a8a48062303da0e9fa6be2e1a7423c85
https://doi.org/10.36290/neu.2019.138

المؤلفون: Katarína Česká, Hana Ošlejšková, Ondřej Horák, Jana Pejčochová, Lenka Fajkusová, Štefánia Aulická, Pavlína Danhofer

المصدر: Česká a slovenská neurologie a neurochirurgie. :148-154

مصطلحات موضوعية: medicine.medical_specialty, Epilepsy, Autism spectrum disorder, business.industry, medicine, Surgery, Neurology (clinical), medicine.disease, business, Psychiatry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d2418571dfd70c0f4381027d72d82a6e
https://doi.org/10.14735/amcsnn2019148

المؤلفون: Daniela Skálová, Jana Zídková, Stanislav Voháňka, Radim Mazanec, Zuzana Mušová, Petr Vondráček, Lenka Mrázová, Josef Kraus, Kamila Réblová, Lenka Fajkusová

المصدر: PLoS ONE, Vol 8, Iss 12, p e82549 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3859631?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/9653d61cf48c46f79d6d9e29cb829433

المؤلفون: Lenka Fajkusová, Iva Procházková, Jana Junkerová

المصدر: Intervenční a akutní kardiologie. 17:14-18

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine, Critical Care and Intensive Care Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::faf12cd57a987aa84fb5a66d25f7cbdd
https://doi.org/10.36290/kar.2018.005

المؤلفون: Dana Dostálková, Blanka Pinková, Hana Bučková, Lenka Fajkusová, Romana Borská

المصدر: Pediatrie pro praxi. 20:248-250

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Female patient, Pediatrics, Perinatology and Child Health, Medicine, Harlequin Ichthyosis, business, Dermatology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56f53e41f0c9f2fb952337aba9be8dfe
https://doi.org/10.36290/ped.2019.076