نتائج البحث - "Mutacija"

1

Academic Journal

Jesu li bubrežne malformacije jedno od obilježja sindroma MEN2B? – prikaz bolesnika i pregled literature

المؤلفون: Anita Špehar Uroić, Nataša Rojnić Putarek, Lucija Kolega Mrkić, Sanja Kusačić-Kuna, Ana Merkler Šorgić, Jadranka Sertić, Sanja Perić, Nevena Krnić

المصدر: Liječnički vjesnik, Vol 145, Iss 5-6, Pp 212-215 (2023)

مصطلحات موضوعية: MULTIPLA ENDOKRINA NEOPLAZIJA TIPA 2B – dijagnoza, genetika, PROTOONKOGEN RET – genetika, MUTACIJA, BUBREG – anomalije, MOKRAĆNI SUSTAV – anomalije, DULARNI KARCINOM – dijagnoza, kirurgija, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://hrcak.srce.hr/file/443247; https://doaj.org/toc/0024-3477; https://doaj.org/toc/1849-2177

URL الوصول: https://doaj.org/article/0cb29b6e012046b18847b84b8731ac6c

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2

Academic Journal

Results of multicenter testing of PIK3CA somatic mutations in hormone-receptor positive HER2-negative advanced breast cancer ; Rezultati multicentričnog testiranja somatskih mutacija gena PIK3CA kod uznapredovalog luminalnog raka dojke s negativnim HER2 receptorom

المؤلفون: Ramić, Snježana, Perić-Balja, Melita, Hadžisejdić, Ita, Marušić, Zlatko, Blažičević, Valerija, Tomić, Snježana

المصدر: Libri Oncologici : Croatian Journal of Oncology ; Volume 51 ; Issue 1 ; ISSN 0300-8142 (Print) ; ISSN 2584-3826 (Online) ; https://hrcak.srce.hr/305504

مصطلحات موضوعية: breast cancer, PIK3CA, mutation, rak dojke, mutacija, BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti. Patologija, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences. Pathology

وصف الملف: application/pdf

Relation: Klinički bolnički centar Rijeka.; Clinical Hospital Center Rijeka.; Sveučilište u Rijeci. Medicinski fakultet. Katedra za opću patologiju i patološku anatomiju.; University of Rijeka. Faculty of Medicine. Department of General Pathology and Pathological Anatomy.; https://www.unirepository.svkri.uniri.hr/islandora/object/medri:7984; https://urn.nsk.hr/urn:nbn:hr:184:081660; https://www.unirepository.svkri.uniri.hr/islandora/object/medri:7984/datastream/FILE0

الاتاحة: https://www.unirepository.svkri.uniri.hr/islandora/object/medri:7984
https://urn.nsk.hr/urn:nbn:hr:184:081660
https://www.unirepository.svkri.uniri.hr/islandora/object/medri:7984/datastream/FILE0

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3

Academic Journal

Gamma irradiation of eggplant seeds influences plant growth, yield and nutritional profile in M1 generation ; Obsevanje semen jajčevca z ℽ-žarki vpliva na rast rastlin, pridelek in prehransko vrednost plodov v M1 generaciji

المؤلفون: OBOK, Ekemini, NWAGWU, Francis, AKPAN, Samuel, Francis, Samuel

المصدر: Acta agriculturae Slovenica; Vol. 119 No. 3 (2023); 1–13 ; Acta agriculturae Slovenica; Letn. 119 Št. 3 (2023); 1–13 ; 1854-1941 ; 10.14720/aas.2023.119.3

مصطلحات موضوعية: ℽ-ray, eggplant, fruits, induced mutation, irradiation, Solanaceae, ℽ-žarek, jajčevec, sadje, inducirana mutacija, obsevanje

وصف الملف: application/pdf

Relation: https://journals.uni-lj.si/aas/article/view/13423/13862

الاتاحة: https://journals.uni-lj.si/aas/article/view/13423
https://doi.org/10.14720/aas.2023.119.3.13423

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4

Academic Journal

The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies ; Značaj direktnog genetičkog testiranja za otkrivanje žena prenosioca mutacije kod distrofinopatija

المؤلفون: Maksić, Jasmina, Maksimović, Nela, Rasulić, Lukas, Milankov, Olgica, Marjanović, Ana, Cvetković, Dragana, Rakočević Stojanović, Vidosava, Novaković, Ivana

المصدر: Vojnosanitetski pregled

مصطلحات موضوعية: genes, genetic testing, muscular dystrophies, mutation, prenatal diagnosis, women, geni, genetičko testiranje, mišići, distrofija, mutacija, prenatalna dijagnoza, žene

Relation: eISSN: 2406-0720; http://rfasper.fasper.bg.ac.rs/handle/123456789/5288; http://rfasper.fasper.bg.ac.rs/bitstream/id/10733/The-importance-of-direct-genetic-testing-for-determining-female-carriers-of-the-mutation-in-dystrophinopathiesVojnosanitetski-Pregled.pdf; 2-s2.0-85164683479

الاتاحة: http://rfasper.fasper.bg.ac.rs/handle/123456789/5288
https://doi.org/10.2298/VSP190208030M
http://rfasper.fasper.bg.ac.rs/bitstream/id/10733/The-importance-of-direct-genetic-testing-for-determining-female-carriers-of-the-mutation-in-dystrophinopathiesVojnosanitetski-Pregled.pdf

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5

Academic Journal

INFANTILNA KORTIKALNA HIPEROSTOZA

المؤلفون: Nika Morgan, Sara Bertok, Damjana Ključevšek, Karin Schara, Jana Lozar Krivec

المصدر: Slovenska pediatrija, Vol 28, Iss 2, Pp 103-107 (2021)

مصطلحات موضوعية: caffeyjeva bolezen, kolagen tipa 1, mutacija gena col1a1, novorojenček, bolezen kosti, kortikalna hiperostoza, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.slovenskapediatrija.si/Portals/0/Clanki/2021/Slovpediatr-2021-2-06.pdf; https://doaj.org/toc/1318-4423; https://doaj.org/toc/2712-3960

URL الوصول: https://doaj.org/article/2dde6d71bfcb4948a3339e09ff28dfeb

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6

Academic Journal

GENETIKA NAGLUŠNOSTI: vzpostavitev diagnostične laboratorijske genetske poti

المؤلفون: ERJAVEC ŠKERGET, ALENKA

المصدر: Pomurska obzorja; Vol 8 No 15 (2021): POMURSKA OBZORJA; 11-14 ; Pomurska obzorja; Letn. 8 Št. 15 (2021): POMURSKA OBZORJA; 11-14 ; 2820-3658 ; 2350-6113

مصطلحات موضوعية: naglušnost, gluhost, genetika, smernice diagnostike naglušnosti, 35delG mutacija

وصف الملف: application/pdf

Relation: https://journals.um.si/index.php/pomurska-obzorja/article/view/1746/1486

الاتاحة: https://journals.um.si/index.php/pomurska-obzorja/article/view/1746
https://doi.org/10.18690/pomurska-obzorja.8.15.11-14.2021

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7

Book

Prediktivna i prognostička uloga gena p1 Ink a, p1 arf i kraS u karcinomu rektuma čoveka ; Predictive and prognostic role of p1 Ink a, p1 arf and kraS genes in humnan rectal carcinoma

المؤلفون: Kožik, Bojana, Kokanov, Nikola

المساهمون: Pavlović, Sonja, Begović, Jelena, Novaković, Ivana, Savić Pavićević, Dušanka, Đorđević, Ana

المصدر: Trendovi u molekularnoj Biologiji

مصطلحات موضوعية: karcinom rektuma (KR), metilacija, mutacija, p16INK4a, p14ARF, KRAS, Rectal Carcinoma (RC), Methylation, Mutation

Relation: https://imagine.imgge.bg.ac.rs/handle/123456789/1722; https://imagine.imgge.bg.ac.rs/bitstream/id/77427/Predictive_and_prognostic_role_of_p1_Ink_a_p1_arf_and_kraS_genes_in_humnan_rectal_carcinoma_2021.pdf; https://hdl.handle.net/21.15107/rcub_imagine_1722

الاتاحة: https://imagine.imgge.bg.ac.rs/handle/123456789/1722
https://imagine.imgge.bg.ac.rs/bitstream/id/77427/Predictive_and_prognostic_role_of_p1_Ink_a_p1_arf_and_kraS_genes_in_humnan_rectal_carcinoma_2021.pdf
https://hdl.handle.net/21.15107/rcub_imagine_1722

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8

Academic Journal

Opredelitev eritrocitoz in predlog diagnostičnega algoritma v Sloveniji

المؤلفون: Nataša Debeljak, Julija Lazarevič, Dejan Miskič, Lucija Vermiglio, Anja Kopitar, Anja Solarovič, Matjaž Sever, Martina Fink, Tadej Pajič, Saša Anžej Doma, Miha Moškon, Irena Preložnik Zupan

المصدر: Zdravniški Vestnik, Vol 88, Iss 5-6, Pp 263-275 (2019)

مصطلحات موضوعية: eritrocitoza, diagnostični algoritem, družinska eritrocitoza, mutacija JAK2, eritropoetin, Medicine

وصف الملف: electronic resource

Relation: https://vestnik.szd.si/index.php/ZdravVest/article/view/2880; https://doaj.org/toc/1318-0347; https://doaj.org/toc/1581-0224

URL الوصول: https://doaj.org/article/88e36c1f4f35471898ebbfd29c4b7659

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9

Academic Journal

Izkušnje z zdravilom olaparib pri zdravljenju recidivnega epitelijskega raka jajčnikov z mutacijami v genih BRCA 1 in BRCA 2

المؤلفون: Erik Škof

المصدر: Onkologija, Vol 25, Iss 1 (2021)

مصطلحات موضوعية: olaparib, epitelijski rak jajčnikov, mutacija v genih BRCA 1/2, neželeni učinki zdravljenja, učinkovitost, progres bolezni, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.revijaonkologija.si/Onkologija/article/view/464; https://doaj.org/toc/1408-1741; https://doaj.org/toc/1581-3215

URL الوصول: https://doaj.org/article/314a78848eae446fa6618cd7021e683a

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10

Academic Journal

Mutations of the CYP21A2 gene: Association of p.V281L mutation with polycystic ovarian syndrome (PCOS)

المؤلفون: Stangler Herodež, Špela, Fijavž, Lusien, Zagradišnik, Boris, Došen, Marko, Takač, Iztok, Kokalj-Vokač, Nadja

المصدر: Acta Medico-Biotechnica; Vol 11 No 2 (2018); 39-49 ; Acta Medico-Biotechnica; Letn. 11 Št. 2 (2018); 39-49 ; 1855-7988 ; 1855-5640

مصطلحات موضوعية: p.V281L mutation, CYP21A2 gene, polycystic ovarian syndrome, PCOS, mutacija p.V281L, gen CYP21A2, sindrom policističnih jajčnikov

وصف الملف: application/pdf

Relation: https://journals.um.si/index.php/amb/article/view/1578/1362; https://journals.um.si/index.php/amb/article/view/1578

الاتاحة: https://journals.um.si/index.php/amb/article/view/1578
https://doi.org/10.18690/actabiomed.169

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11

Academic Journal

Clinical and haplotypic variability of Slovenian USH2A patients homozygous for the c. 11864G>A nonsense mutation

المؤلفون: Zupan, Andrej, Fakin, Ana, Battelino, Saba, Jarc-Vidmar, Martina, Hawlina, Marko, Bonnet, Crystel, Petit, Christine, Glavač, Damjan

المصدر: Genes, vol. 10, no. 12, art 1015, 2019. ; ISSN: 2073-4425

مصطلحات موضوعية: USH2A, haplotypic variability, homozygous mutation, usher syndrome, founder effect, haplotype analysis, high resolution melting analysis, haplotipska spremenljivost, homozigotna mutacija, info:eu-repo/classification/udc/617.7

وصف الملف: application/pdf; text/url

Relation: info:eu-repo/grantAgreement/ARRS//P3-0054; info:eu-repo/grantAgreement/ARRS//P3-0333; https://repozitorij.uni-lj.si/IzpisGradiva.php?id=133089; https://repozitorij.uni-lj.si/Dokument.php?id=150878&dn=; https://repozitorij.uni-lj.si/Dokument.php?id=150877&dn=; https://plus.si.cobiss.net/opac7/bib/34616281?lang=sl

الاتاحة: https://repozitorij.uni-lj.si/IzpisGradiva.php?id=133089
https://repozitorij.uni-lj.si/Dokument.php?id=150878&dn=
https://repozitorij.uni-lj.si/Dokument.php?id=150877&dn=
https://plus.si.cobiss.net/opac7/bib/34616281?lang=sl

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12

Academic Journal

Creation of numerical constants in robust gene expression programming

المؤلفون: Fajfar, Iztok, Tuma, Tadej

المصدر: Entropy, vol. 20, no. 10, art 756, 2018. ; ISSN: 1099-4300

وصف الملف: application/pdf; text/url

Relation: info:eu-repo/grantAgreement/ARRS//P2-0246; https://repozitorij.uni-lj.si/IzpisGradiva.php?id=132103; https://repozitorij.uni-lj.si/Dokument.php?id=149624&dn=; https://repozitorij.uni-lj.si/Dokument.php?id=149623&dn=; https://plus.si.cobiss.net/opac7/bib/12233812?lang=sl

الاتاحة: https://repozitorij.uni-lj.si/IzpisGradiva.php?id=132103
https://repozitorij.uni-lj.si/Dokument.php?id=149624&dn=
https://repozitorij.uni-lj.si/Dokument.php?id=149623&dn=
https://plus.si.cobiss.net/opac7/bib/12233812?lang=sl

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13

Academic Journal

Keratin dynamics and spatial distribution in wild-type and K14 R125P mutant cells - a computational model

المؤلفون: Gouveia, Marcos, Ikeshima-Kataoka, Hiroko, Zemljič Jokhadar, Špela, Vidak, Marko, Stojković, Biljana, Derganc, Jure, Travasso, Rui, Liović, Mirjana

المصدر: International journal of molecular sciences, vol. 21, no. 7, pp. 1-13, 2020. ; ISSN: 1422-0067

مصطلحات موضوعية: keratin, epidermolysis bullosa simplex, mutation, phase-field model, reaction-diffusion-advection equation, epidermoliza bullosa simplex, mutacija, model faznega polja, enačba reakcije-difuzije-advekcije, info:eu-repo/classification/udc/61

وصف الملف: application/pdf; text/url

Relation: info:eu-repo/grantAgreement/Drugi/COST/CA15214; info:eu-repo/grantAgreement/Drugi/FCT—Foundation for Science and Technology/UID%2FFIS%2F04564%2F2016; info:eu-repo/grantAgreement/Drugi/FCT—Foundation for Science and Technology/POCI-01-0145-FEDER-031743%20%E2%80%93PTDC%2FBIA-CEL%2F31743%2F2017; info:eu-repo/grantAgreement/Drugi/UE/FEDER/CENTRO-01-0145-FEDER-000014; info:eu-repo/grantAgreement/ARRS//P1-0055; info:eu-repo/grantAgreement/ARRS//P1-0390; info:eu-repo/grantAgreement/Drugi/EraCoSysMed/JTC-2%202017; https://repozitorij.uni-lj.si/IzpisGradiva.php?id=125685; https://repozitorij.uni-lj.si/Dokument.php?id=141527&dn=; https://repozitorij.uni-lj.si/Dokument.php?id=141526&dn=; https://plus.si.cobiss.net/opac7/bib/34772697?lang=sl

الاتاحة: https://repozitorij.uni-lj.si/IzpisGradiva.php?id=125685
https://repozitorij.uni-lj.si/Dokument.php?id=141527&dn=
https://repozitorij.uni-lj.si/Dokument.php?id=141526&dn=
https://plus.si.cobiss.net/opac7/bib/34772697?lang=sl

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