Pregled po CROSBI profilu: Katja Dumić Kubat (CROSBI Profil: 25102, MBZ: 316874)
Pronađeno 56 radova
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1.Filipović-Grčić, Maja; Stipanović, Jasminka; Duić, Željko; Vidak, Zoran; Juka Kožul, Gorana; Bojanić, Katarina; Vukasović, Marko; Stipančić, Gordana; La Grasta Sabolić, Lavinia; Dumić Kubat, KatjaTrudnica i novorođenče s neonatalnim dijabetes melitusom – prikaz slučaja . . . // XXXIV. PERINATALNI DANI „ANTE DRAŽANČIĆ” XXXIV. PERINATAL DAYS ”ANTE DRAŽANČIĆ” ZBORNIK RADOVA CONFERENCE PROCEEDINGS / Juras., Josip (ur.).
Zagreb: Hrvatsko društvo za perinatalnu medicinu Hrvatskog liječničkog zbora, 2023. str. 94-94 (predavanje, domaća recenzija, sažetak, stručni) -
2.Dumić, Katja; Grubic, Zorana; Kušec, Vesna; Braovac, Duje; Gotovac, Kristina; Vinkovic, Maja; Vučinić, Maja; Dumić, MiroslavPrevalence and genotype of 21-hydroxylase deficiency in Croatian Romani population // Frontiers in endocrinology (Lausanne), XX (2023), XX; 1170449, 6 doi:10.3389/fendo.2023.1170449 (međunarodna recenzija, članak, znanstveni)
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3.Matej Dobrošević; Vinko Michael Dodig; Lara Fotez; Katja Dumić Kubat; Sanda Huljev FrkovićPallister-Hall syndrome- a case report // OSCON book of abstracts / Pavlović, Vedrana (ur.).
Osijek: Sveučilište Josipa Jurja Strossmayera u Osijeku, 2023. str. 56-56 (poster, recenziran, sažetak, stručni) -
4.Dohr, Katrin A.; Tokic, Silvija; Gastager-Ehgartner, Magdalena; Stojakovic, Tatjana; Dumic, Miroslav; Plecko, Barbara; Dumic, Katja K.Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked // International Journal of Molecular Sciences, 24 (2023), 6; 5957, 11 doi:10.3390/ijms24065957 (međunarodna recenzija, članak, znanstveni)
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5.Zhang, Chaofan; Jolly, Angad; Shayota, Brian; Mazzeu, Juliana; Du, Haowei; Dawood, Moez; Celestino, Patricia; Ramalho, Ariadne; Merfort, Bárbara; Coban-Akdemir, Zeynep et al.Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability // HGG Advances, 3 (2022), 1; 100074-100093 doi:10.1016/j.xhgg.2021.100074 (međunarodna recenzija, članak, znanstveni)
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6.Kos, Ivanka; Dumić Kubat, Katja; Bartoniček, Dorotea; Lehman, Ivan; Ban, Maja; Matković, Hana; Lamot, Lovro; Kristina, VrljičakPersistent multiple post - COVID complications with autonomic dysfunction in a 16- year old girl with end-stage renal disease // Pediatric Nephrology
Ljubljana, Slovenija, 2022. str. 2878-2879 doi:10.1007/s00467-022-05630-1 (poster, međunarodna recenzija, sažetak, stručni) -
7.Andrews, Afiya; Maharaj, Avinaash; Cottrell, Emily; Chatterjee, Sumana; Shah, Pratik; Denvir, Louise; Dumic, Katja; Bossowski, Artur; Mushtaq, Talat; Vukovic, Rade et al.Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes // The Journal of Clinical Endocrinology & ; Metabolism, 106 (2021), 11; 4716-4733 doi:10.1210/clinem/dgab437 (međunarodna recenzija, članak, znanstveni)
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8.Aničić, Mirna Natalija; Todorić, Ivana; Marčinković, Nedo; Kovačić, Matea; Dumić Kubat, Katja; Špehar Uroić, Anita; Krnić, Nevena; Omerza, Lana; Senečić Čala, Irena; Tješić-Drinković, Duška; Vuković, JuricaImportance of gamma-glutamyl transferase in type 1 diabetes mellitus in children // Journal of pediatric gastroenterology and nutrition, 72 (2021), 1
online, 2021. str. 876-876 doi:10.1097/mpg.0000000000003177 (poster, međunarodna recenzija, sažetak, znanstveni) -
9.Braovac, Duje; Krnić, Nevena; Dumić Kubat, Katja; Špehar Uroić, Anita; Marjanac, Igor; Vuković, JuricaUse of GLP-1 analog in a patient with Prader-Willi syndrome // Archives of disease in childhood, 106 (2021), Suppl 2
Zagreb, Hrvatska, 2021. str. A88-A88 doi:10.1136/archdischild-2021-europaediatrics.208 (poster, međunarodna recenzija, sažetak, znanstveni) -
10.Vukšić, Iva; Dumić Kubat, Katja; Ćaleta, Tomislav; Matić, Toni; Cigrovski, Nevenka; Kelečić, Jadranka; Pasini, Miram; Luetić, Tomislav; Vuković, Jurica; Sindičić Dessardo, Nada; Grizelj, RužaMultiple intestinal atresia with combined immunodeficiendy due to TTC7A gene mutation - case report // Archives of disease in childhood, 106 (2021), Suppl 2
Zagreb, Hrvatska, 2021. str. A51-A52 doi:10.1136/archdischild-2021-europaediatrics.122 (poster, međunarodna recenzija, sažetak, znanstveni) -
11.Braovac, Duje; Dumić Kubat, Katja; Matković, Hana; Ćaleta, Tomislav; Aničić, Mirna Natalija; Gotovac Jerčić, Kristina; Vuković, Jurica; Sindičić Dessardo, Nada; Grizelj, RužaNovel presentation of neonatal-onset hereditary coproporphyria // Journal of pediatric gastroenterology and nutrition, 72 (2021), Suppl 1
Beč, Austrija, 2021. str. 895-895 (poster, međunarodna recenzija, sažetak, znanstveni) -
12.Kortüm, Fanny; Niceta, Marcello; Magliozzi, Monia; Dumic Kubat, Katja; Robertson, Stephen P.; Moresco, Angelica; Dentici, Maria Lisa; Baban, Anwar; Leoni, Chiara; Onesimo, Roberta et al.Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants // European Journal of Medical Genetics, 63 (2020), 9; 103996-103999 doi:10.1016/j.ejmg.2020.103996 (međunarodna recenzija, članak, znanstveni)
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13.van Schie, Janne J. M.; Faramarz, Atiq; Balk, Jesper A.; Stewart, Grant S.; Cantelli, Erika; Oostra, Anneke B.; Rooimans, Martin A.; Parish, Joanna L.; de Almeida Estéves, Cynthia; Dumic, Katja et al.Warsaw Breakage Syndrome associated DDX11 helicase resolves G- quadruplex structures to support sister chromatid cohesion // Nature Communications, 11 (2020), 1; 4287-4305 doi:10.1038/s41467-020-18066-8 (međunarodna recenzija, članak, znanstveni)
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14.Dumić Kumbat, Katja; Antičević, Darko; Petrinović-Dorešić, Jelena; Žigman, Tamara; Žarković, Kamelija; Rokić, Filip; Vugrek, OliverLowe syndrome - Old and new evidence of secondary mitochondrial dysfunction // European journal of medical genetics, 63 (2020), 10; 104022, 4 doi:10.1016/j.ejmg.2020.104022 (međunarodna recenzija, članak, znanstveni)
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15.Krnic, Nevena; Huljev Frkovic, Sanda; Dumic Kubat, Katja; Braovac, Duje; Spehar Uroic, AnitaUnusual Case of Patient with Klinefelter Syndrome With Shox Deletion Born to the Mother With LeriWeill Dyschondrosteosis // Hormone Research in Paediatrics
Beč, Austrija: Karger Publishers, 2019. str. 444-444 (poster, međunarodna recenzija, sažetak, ostalo) -
16.Dumic Kubat, Katja; Kusec, Vesna; Spehar Uroic, Anita; Vinkovic, Maja; Krnic, NevenaFunctional adrenocortical oncocytoma – a rare cause of progressive virilization and secondary amenorrhea // Hormone Research in Paediatrics
Beč, Austrija: Karger Publishers, 2019. str. 364-364 (poster, međunarodna recenzija, sažetak, znanstveni) -
17.Krnić, Nevena; Špehar Uroić, Anita; Bogdanić, Ana; Dumić Kubat, Katja; Pavić, Eva; Rojnić Putarek, NatašaWeight Loss Outcomes in Two-Year Multidisciplinary Lifestyle Intervention Program Involving Obese Children and their Parents // Hormone Research in Paediatrics / Chrousos, George P. (ur.).
Atena, Grčka: S. Karger, 2018. str. 328-328 doi:10.1159/000492307 (poster, međunarodna recenzija, sažetak, ostalo) -
18.Krnić, Nevena; Rojnić Putarek, Nataša; Dumić Kubat, Katja; Strelec, Mihajlo; Špehar Uroić, Anita; Macan, Marija; Škrgatić, Lana; Kušec, VesnaSevere virilization in adolescent girl with Sertoli-Leydig cell tumor – case report and review of the literature // Central European journal of paediatrics, 14 (2018), 1; 92-97 doi:10.5457/p2005-114.205. (međunarodna recenzija, članak, znanstveni)
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19.Khattab, Ahmed; Haider, Shozeb; Kumar, Ameet; Dhawan, Samarth; Alam, Dauood; Romero, Raquel; Burns, James; Li, Di; Estatico, Jessica; Rahi, Simran et al.Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β- hydroxylase deficiency // Proceedings of the National Academy of Sciences, 114 (2017), 10; 1933-1940 doi:10.1073/pnas.1621082114 (međunarodna recenzija, članak, znanstveni)
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20.Grubic, Zorana; Maskalan, Marija; Stingl Jankovic, Katarina; Zvecic, Sabina; Dumic Kubat, Katja; Krnic, Nevena; Zunec, Renata; Dumic, MiroslavAssociation of the CYP21A2 gene p. V282L mutation with HLA alleles and haplotypes in the Croatian population // Abstracts for the 31st European Immunogenetics and Histocompatibility Conference (EFI) 25th Annual Meeting of the German Society for Immunogenetics (DGI) Mannheim/Heidelberg, Germany 30 May-2 June 2017 / Steven GE Marsh (ur.).
Mannheim, Njemačka: John Wiley & Sons, 2017. str. 448-448 (poster, međunarodna recenzija, sažetak, znanstveni) -
21.Dumić Kubat, Katja; Šeremet, Jasmina; Čančarević, Gabrijela; Omerza, Lana; Aničić, Mirna; Merkler, Ana; Kelečić, Jadranka; Malčić, Ivan; Sertić, Jadranka; Grizelj, Ruža; Vuković, JuricaShwachman-Diamondov sindrom - nova mutacija gena SBDS // Paediatria Croatica 2016 ; 60(Suppl. 3)
Opatija, Hrvatska, 2016. str. 152-152 (poster, domaća recenzija, sažetak, stručni) -
22.Rojnić Putarek, Nataša; Novak, Milivoj; Špehar Uroić, Anita, Krnić, Nevena; Dumić Kubat, Katja; Slaviček, Jasna; Vuković, JuricaPROLAZNA, TEŠKA INZULINSKA REZISTECIJA U DJETETA S NOVOOTKRIVENIM DIJABETESOM MELITUSOM TIP 1, DIJABETIČKOM KETOACIDOZOM, HIPERLIPIDEMIJOM I AKUTNIM PANKREATITISOM // Paediatria Croatica / Barišić, Ingeborg (ur.).
Zagreb, 2016. str. 118-118 (poster, domaća recenzija, sažetak, ostalo) -
23.Rojnić Putarek, Nataša; Novak, Milivoj; Špehar Uroić, Anita, Krnić, Nevena; Dumić Kubat, KatjaTransient extreme insulin resistance in childhood onset diabetes mellitus type 1 presenting with severe diabetic ketoacidosis, hyperlipidemia and acute pancreatitis // Pediatric Diabetes
Valencia, Španjolska: Wiley Online Library, 2016. str. 130-130 (poster, međunarodna recenzija, sažetak, ostalo) -
24.Grubić, Zorana; Maskalan, Marija; Štingl Janković, Katarina; Zvečić, Sabina; Dumić Kubat, Katja; Krnić, Nevena; Žunec, Renata; Ille, Jasminka; Kušec, Vesna; Dumić, MiroslavAssociation of HLA alleles and haplotypes with CYP21A2 gene p.V282L mutation in the Croatian population // HLA, 88 (2016), 5; 239-244 doi:10.1111/tan.12907 (međunarodna recenzija, članak, znanstveni)
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25.Filipović-Grčić, Boris; Mustapić, Željka; Rodin, Urelija; Bartoniček, Dorotea; Grizelj, Ruža; Stpanović-Kastelić, Jasminka; Kniewald, Hrvoje; Ninković, Dorotea; Benjak, Vesna; Dumić Kubat, Katja et al.Smrtnost novorođenčadi do otpusta iz bolnice u Republici Hrvatskoj u 2014. godini // Gynaecologia et Perinatologia 2015 ; 24(Suppl. 1)
Zagreb, Hrvatska, 2015. str. S26-S32 (ostalo, domaća recenzija, cjeloviti rad (in extenso), znanstveni)
