يعرض 1 - 17 نتائج من 17 نتيجة بحث عن '"Kero, Mijana"', وقت الاستعلام: 0.41s تنقيح النتائج
  1. 1
    Academic Journal
    Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels

    المؤلفون: Murray, Aoife, Gough, Gillian, Cindrić, Ana, Vučković, Frano, Koschut, David, Borelli, Vincenzo, Petrović, Dražen J, Bekavac, Ana, Plećaš, Ante, Hribljan, Valentina, Brunmeir, Reinhard, Jurić, Julija, Pučić-Baković, Maja, Slana, Anita, Deriš, Helena, Frkatović, Azra, Groet, Jűrgen, O'Brien, Niamh L, Chen, Hong Yu, Yeap, Yee Jie, Delom, Frederic, Havlicek, Steven, Gammon, Luke, Hamburg, Sarah, Startin, Carla, D'Souza, Hana, Mitrečić, Dinko, Kero, Mijana, Odak, Ljubica, Krušlin, Božo, Krsnik, Željka, Kostović, Ivica, Foo, Jia Nee, Loh, Yuin-Han, Dunn, Norris Ray, de la Luna, Susana, Spector, Tim, Barišić, Ingeborg, Thomas, Michael S C, Strydom, Andre, Franceschi, Claudio, Lauc, Gordan, Krištić, Jasminka, Alić, Ivan, Nižetić, Dean

    المصدر: Murray , A , Gough , G , Cindrić , A , Vučković , F , Koschut , D , Borelli , V , Petrović , D J , Bekavac , A , Plećaš , A , Hribljan , V , Brunmeir , R , Jurić , J , Pučić-Baković , M , Slana , A , Deriš , H , Frkatović , A , Groet , J , O'Brien , N L , Chen , H Y , Yeap , Y J , Delom , F , Havlicek , S , Gammon , L , Hamburg , S ....

    مصطلحات موضوعية: Ageing, Chromosome 21, DYRK1A, DYRK1A inhibitors, Down syndrome, Down syndrome critical region, IgG glycan, LaminB1

    الاتاحة: https://pure.roehampton.ac.uk/portal/en/publications/8496a393-9b3a-4e82-b4da-8a47c8b212ec
    https://doi.org/10.1016/j.ebiom.2023.104692
    https://www.thelancet.com/journals/ebiom/article/PIIS2352-3964(23)00257-8/fulltext

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  2. 2
    Conference
    84 RARE COPY NUMBER VARIANTS IN CONGENITAL HEART DEFECTS

    المؤلفون: Davidović, Maša, Pohovski, Leona Morožin, Rogulj, Nikolina Vidan, Sansovic, Ivona, Bobinec, Adriana, Meašić, Ana-Maria, Kero, Mijana, Boban, Ljubica, Malčić, Ivan, Barišic, Ingeborg

    المصدر: Abstracts ; page A36.1-A36

    الاتاحة: http://dx.doi.org/10.1136/archdischild-2021-europaediatrics.84
    https://syndication.highwire.org/content/doi/10.1136/archdischild-2021-europaediatrics.84

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  3. 3
    Conference
    98 Clinical exome sequencing in the diagnosis of autism spectrum disorder

    المؤلفون: Odak, Ljubica, Meašić, Ana-Marija, Bobinec, Adriana, Kero, Mijana, Sansović, Ivona, Vulin, Katarina, Tomić, Mirko, Barišić, Ingeborg

    المصدر: Abstracts ; page A41.2-A41

    الاتاحة: http://dx.doi.org/10.1136/archdischild-2021-europaediatrics.98
    https://syndication.highwire.org/content/doi/10.1136/archdischild-2021-europaediatrics.98

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  4. 4
    Chromosomal microarray in clinical diagnosis of cerebral palsy

    المؤلفون: Vulin, Katarina, Odak, Ljubica, Morožin Pohovski, Leona, Đaković, Ivana, Tripalo Batoš, Ana, Meašić, Ana-Maria, Kero, Mijana, Sansović, Ivona, Bobinec, Adrana, Barišić, Ingeborg

    المساهمون: Marjanović, D

    مصطلحات موضوعية: cerebral palsy, chromosomal microarray, copy number variants

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::b863a1cc4130302c0b58d1ce34eb634b
    https://doi.org/10.54062/jb

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  5. 5
    Academic Journal
    Neurološke manifestacije mukopolisaharidoza.

    Alternate Title: Neurological manifestations of mucopolysaccharidoses.

    المؤلفون: Kero, Mijana1 mijana.kero@gmail.com

    المصدر: Paediatria Croatica. Oct-Dec2020, Vol. 64 Issue 4, p261-266. 6p.

    مصطلحات موضوعية: *BONE marrow transplantation, *SYMPTOMS, *ENZYME deficiency, *CENTRAL nervous system, *RESPIRATORY infections, *GLYCOGEN storage disease type II


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  6. 6
    Genotipsko-fenotipska korelacija rijetke mikrodelecije 17q24.1-q24.3

    المؤلفون: Bobinec, Adriana, Ivankov, Ana-Maria, Kero, Mijana, Sansović, Ivona, Barišić, Ingeborg

    مصطلحات موضوعية: 17q24.1-q24.3 mikrodelecija, CNV, PRKCA, PSMD12, KPNA2, PRKAR1A, KCNJ2, CMA

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::ace44d948dbf52c6eab54803840ded7f
    https://www.bib.irb.hr/1269423

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  7. 7
    Sindrom Kleefstra: prikaz bolesnika s asimetričnom hipetrofičnom kardiomiopatijom

    المؤلفون: Kero, Mijana, Morožin-Pohovski, Leona, Čače, Neven, Barišić, Ingeborg

    مصطلحات موضوعية: Kleefstra sindrom, kardiomiopatija

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::2783c1f52e6d23edaaf50e4706a13bd3
    https://www.bib.irb.hr/734524

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  8. 8
    Congenital anomalies in patients with submicroscopic chromosome abnormalities

    المؤلفون: Kero, Mijana, Morožin Pohovski, Leona, Sansović, Ivona, Odak, Ljubica, Dumić, Katja, Barišić, Ingeborg

    مصطلحات موضوعية: Congenital anomalies, submicroscopic chromosome abnormalities

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::407975838a3f69c1a9d1424c5f762685
    https://www.bib.irb.hr/674921

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  9. 9
    Sindrom poplitealnog pterigija

    المؤلفون: Kero, Mijana, Dumić Kubat, Katja, Antičević, Darko, Barišić, Ingeborg

    مصطلحات موضوعية: sindrom poplitealnog pterigija

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::1e9fe183bddf7929c2b5cd7593033342
    https://www.bib.irb.hr/675140

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  10. 10
    Academic Journal
    Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.

    المؤلفون: Sansović, Ivona1,2,3 ivonas3010@gmail.com, Meašić, Ana-Maria1,3, Bobinec, Adriana1,3, Pohovski, Leona Morožin1,3, Odak, Ljubica1,3, Vulin, Katarina1,3, Lozić, Bernarda4,5, Kero, Mijana4, Frković, Sanda Huljev6, Pušeljić, Silvija7

    المصدر: Croatian Medical Journal. Jun2024, Vol. 65 Issue 3, p198-208. 11p.

    مصطلحات موضوعية: *GENETIC variation, *HEARING disorders, *CHILDREN'S hospitals, *FREQUENCY spectra, *GENETIC testing

    مصطلحات جغرافية: CROATIA, ZAGREB (Croatia)

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  11. 11
    Academic Journal
    Clinical relevance of the TECTA c.6183G>T variant identified in a family with autosomal dominant hearing loss: a case report.

    المؤلفون: Sansović, Ivona1 ivonas3010@gmail.com, Meašić, Ana-Maria1, Odak, Ljubica1, Kero, Mijana2

    المصدر: Croatian Medical Journal. Oct2023, Vol. 64 Issue 5, p329-333. 5p.

    مصطلحات موضوعية: *HEARING disorders, *MISSENSE mutation, *MEDICAL genetics, *MEDICAL genomics, *GENETIC variation

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  12. 12
    Academic Journal
    Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.

    المؤلفون: Sansović, Ivona1 ivonas3010@gmail.com, Ivankov, Ana-Maria1, Bobinec, Adriana1, Kero, Mijana1, Barišić, Ingeborg1

    المصدر: Croatian Medical Journal. Jun2017, Vol. 58 Issue 3, p231-238. 8p.

    مصطلحات موضوعية: *DNA microarrays, *INTELLECTUAL disabilities, *HUMAN abnormalities, *DNA copy number variations, *DEVELOPMENTAL delay, *GENOTYPES, *DIAGNOSIS

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  13. 13
    Dissertation/ Thesis
    Bolesti sa X - vezanim nasljeđivanjem

    المؤلفون: Kovak, Laura

    المساهمون: Kero, Mijana

    مصطلحات موضوعية: Genotip-fenotip korelacije, Klinička slika, Genetika bolesti, BIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti. Fiziologija čovjeka, BIOMEDICINE AND HEALTHCARE. Basic Medical Sciences. Human Physiology

    وصف الملف: application/pdf

    Relation: https://sveznalica.zvu.hr/islandora/object/zvu:6885; https://urn.nsk.hr/urn:nbn:hr:139:762060; https://sveznalica.zvu.hr/islandora/object/zvu:6885/datastream/PDF

    الاتاحة: https://sveznalica.zvu.hr/islandora/object/zvu:6885
    https://urn.nsk.hr/urn:nbn:hr:139:762060
    https://sveznalica.zvu.hr/islandora/object/zvu:6885/datastream/PDF

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  14. 14
    Dissertation/ Thesis
    Genotip - fenotip korelacije kod bolesti uzrokovanih dinamičkim mutacijama

    المؤلفون: Džolan, Matea

    المساهمون: Kero, Mijana

    مصطلحات موضوعية: dinamičke mutacije, ponavljajući trinukleotidni nizovi, genotip-fenotip korelacije bolesti, anticipacija, genska terapija, BIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti. Fiziologija čovjeka, BIOMEDICINE AND HEALTHCARE. Basic Medical Sciences. Human Physiology

    وصف الملف: application/pdf

    Relation: https://sveznalica.zvu.hr/islandora/object/zvu:6330; https://urn.nsk.hr/urn:nbn:hr:139:905411; https://sveznalica.zvu.hr/islandora/object/zvu:6330/datastream/PDF

    الاتاحة: https://sveznalica.zvu.hr/islandora/object/zvu:6330
    https://urn.nsk.hr/urn:nbn:hr:139:905411
    https://sveznalica.zvu.hr/islandora/object/zvu:6330/datastream/PDF

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  15. 15
    Dissertation/ Thesis
    Cistična fibroza - nove spoznaje

    المؤلفون: Piljek, Mihaela

    المساهمون: Kero, Mijana

    مصطلحات موضوعية: cistična fibroza, CFTR gen, novorođenački probir, CFTR modulatori, BIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti. Fiziologija čovjeka, BIOMEDICINE AND HEALTHCARE. Basic Medical Sciences. Human Physiology

    وصف الملف: application/pdf

    Relation: https://sveznalica.zvu.hr/islandora/object/zvu:6881; https://urn.nsk.hr/urn:nbn:hr:139:293603; https://sveznalica.zvu.hr/islandora/object/zvu:6881/datastream/PDF

    الاتاحة: https://sveznalica.zvu.hr/islandora/object/zvu:6881
    https://urn.nsk.hr/urn:nbn:hr:139:293603
    https://sveznalica.zvu.hr/islandora/object/zvu:6881/datastream/PDF

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  16. 16
    Dissertation/ Thesis
    Kromosomske aberacije i neplodnost

    المؤلفون: Šapina, Martina

    المساهمون: Kero, Mijana

    مصطلحات موضوعية: neplodnost, kromosomske aberacije, Turnerov sindrom, Klinefelterov sindrom, translokacije, BIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti. Fiziologija čovjeka, BIOMEDICINE AND HEALTHCARE. Basic Medical Sciences. Human Physiology

    وصف الملف: application/pdf

    Relation: https://sveznalica.zvu.hr/islandora/object/zvu:6883; https://urn.nsk.hr/urn:nbn:hr:139:501861; https://sveznalica.zvu.hr/islandora/object/zvu:6883/datastream/PDF

    الاتاحة: https://sveznalica.zvu.hr/islandora/object/zvu:6883
    https://urn.nsk.hr/urn:nbn:hr:139:501861
    https://sveznalica.zvu.hr/islandora/object/zvu:6883/datastream/PDF

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  17. 17
    Dissertation/ Thesis
    Prenatalna genetska dijagnostika

    المؤلفون: Mihalinec, Dorotea

    المساهمون: Kero, Mijana

    مصطلحات موضوعية: prenatalna genetska dijagnostika, neinvazivne metode, invazivne metode, BIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti. Fiziologija čovjeka, BIOMEDICINE AND HEALTHCARE. Basic Medical Sciences. Human Physiology

    وصف الملف: application/pdf

    Relation: https://sveznalica.zvu.hr/islandora/object/zvu:6888; https://urn.nsk.hr/urn:nbn:hr:139:110959; https://sveznalica.zvu.hr/islandora/object/zvu:6888/datastream/PDF

    الاتاحة: https://sveznalica.zvu.hr/islandora/object/zvu:6888
    https://urn.nsk.hr/urn:nbn:hr:139:110959
    https://sveznalica.zvu.hr/islandora/object/zvu:6888/datastream/PDF

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