Zobrazeno 1 - 10
of 167
pro vyhledávání: '"BIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti. Genetika, genomika i proteomika čovjeka"'
Autor:
Lessel, Davor
Segmentni progeroidni sindromi iznimno su rijetki, klinički i genetski heterogeni poremećaji karakterizirani znakovima preuranjenog/ubrzanog starenja koji zahvaćaju više tkiva ili organa. Cilj ovdje predstavljenih studija bio je identificirati no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::32d657c14ebc5e801fa6379549aabeea
https://urn.nsk.hr/urn:nbn:hr:171:120702
https://urn.nsk.hr/urn:nbn:hr:171:120702
Autor:
Despotović, Marta, Pereza, Nina, Peterlin, Borut, Ostojić, Saša, Golob, B, Maver, A, Roganović, Jelena
Publikováno v:
Balkan Journal of Medical Genetics
Volume 25
Issue 1
Volume 25
Issue 1
Introduction Heterozygous pathogenic and likely pathogenic sequence variants in the RUNX1 (Runt-related Transcription Factor 1) gene are a common genetic cause of decreased platelet count and/or platelet dysfunction and an increased risk of developin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee8d2181717637f8bd6e11d0454a64a2
https://urn.nsk.hr/urn:nbn:hr:184:600519
https://urn.nsk.hr/urn:nbn:hr:184:600519
Autor:
Tea Mladenić, Martina Mavrinac, Sanja Dević Pavlić, Anna Malnar, Matea Matić, Sara Mikić, Saša Ostojić, Nina Pereza
Publikováno v:
Wiener Klinische Wochenschrift
Volume 1
Volume 1
To examine the knowledge, behavior, and attitudes toward medical genetics among obstetrics and gynecology, pediatrics, and neurology residents and specialists, who encounter the highest number of patients with specific genetic disorders, in their eve
Publikováno v:
Liječnički vjesnik
Volume 145
Issue 1-2
Volume 145
Issue 1-2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::94adc2b13f03d662c2e187034c1c9806
https://repository.medri.uniri.hr/islandora/object/medri:7414/datastream/FILE0
https://repository.medri.uniri.hr/islandora/object/medri:7414/datastream/FILE0
Autor:
Dijana Majstorović, Anita Barišić, Ivana Babić Božović, Iva Bilić Čače, Neven Čače, Mauro Štifanić, Jadranka Vraneković
Publikováno v:
Genes
Volume 14
Issue 3
Pages: 576
Volume 14
Issue 3
Pages: 576
Impairments of the genes that encode enzymes that are involved in one-carbon metabolism because of the presence of gene polymorphisms can affect the methylation pattern. The altered methylation profiles of the genes involved in cardiogenesis may resu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8706e8bdbb74ee276fbb31ea13e0a279
https://doi.org/10.3390/genes14030576
https://doi.org/10.3390/genes14030576
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 44, p 44 (2022)
International Journal of Molecular Sciences
Volume 23
Issue 1
International Journal of Molecular Sciences
Volume 23
Issue 1
Calciotropic hormones, parathyroid hormone (PTH) and calcitonin are involved in the regulation of bone mineral metabolism and maintenance of calcium and phosphate homeostasis in the body. Therefore, an understanding of environmental and genetic facto
Autor:
Anja Kovanda, Valentino Rački, Gaber Bergant, Dejan Georgiev, Dušan Flisar, Eliša Papić, Marija Brankovic, Milena Jankovic, Marina Svetel, Nataša Teran, Aleš Maver, Vladimir S. Kostic, Ivana Novakovic, Zvezdan Pirtošek, Martin Rakuša, Vladimira Vuletić, Borut Peterlin
Publikováno v:
npj Parkinson's Disease
Volume 8
Issue 1
Volume 8
Issue 1
Parkinson’s disease (PD) guidelines lack clear criteria for genetic evaluation. We assessed the yield and rationale of genetic testing for PD in a routine clinical setting on a multicenter cohort of 149 early-onset and familial patients by exome se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9480bc35340c5460c74d898a922f68a0
https://repository.medri.uniri.hr/islandora/object/medri:7061/datastream/FILE0
https://repository.medri.uniri.hr/islandora/object/medri:7061/datastream/FILE0
Autor:
Sergej Nadalin, Sanja Dević Pavlić, Vjekoslav Peitl, Dalibor Karlović, Lena Zatković, Smiljana Ristić, Alena Buretić-Tomljanović, Hrvoje Jakovac
Publikováno v:
International Journal of Molecular Sciences
Volume 23
Issue 20
International Journal of Molecular Sciences; Volume 23; Issue 20; Pages: 12180
Volume 23
Issue 20
International Journal of Molecular Sciences; Volume 23; Issue 20; Pages: 12180
We investigated whether a functional insertion/deletion (I/D) polymorphism of angiotensin-converting enzyme (ACE) influenced antipsychotic treatment. At baseline, and after 8 weeks of treatment with various antipsychotic medications, we assessed pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b327280c1300f31771ba3a0e2cf54733
https://repository.medri.uniri.hr/islandora/object/medri:6914
https://repository.medri.uniri.hr/islandora/object/medri:6914
Autor:
Suša, Matea
COVID-19 infektivna je respiratorna bolest uzrokovana SARS-CoV-2 virusom, koja se brzo proširila svijetom u posljednje dvije godine. Dosadašnja saznanja upućuju na to da se radi o iznimno složenoj multifaktorijalnoj i poligenskoj bolesti u kojoj
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______4121::2e5c9dd4d7c38c35d6a12947fcf0bf1e
https://repository.medri.uniri.hr/islandora/object/medri:6730/datastream/PDF
https://repository.medri.uniri.hr/islandora/object/medri:6730/datastream/PDF