Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia
Sansović, Ivona, Meašić, Ana-Maria, Bobinec, Adriana, Morožin Pohovski, Leona, Odak, Ljubica, Vulin, Katarina, Lozić, Bernarda, Kero, Mijana, Huljev Frković, Sanda, Pušeljić, Silvija
Published in Croatian medical journal (01.06.2024)
Published in Croatian medical journal (01.06.2024)
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Journal Article
Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis
Ćuk, Mario, Lovrenčić, Luka, Unal, Busra, Walker, McKenzie, Hayes, Connor P, Krakar, Goran, Beluzić, Robert, Sansović, Ivona, Pavliša, Goran, Ghazani, Arezou A
Published in The American journal of case reports (12.07.2024)
Published in The American journal of case reports (12.07.2024)
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Journal Article
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability
Sansović, Ivona, Ivankov, Ana-Maria, Bobinec, Adriana, Kero, Mijana, Barišić, Ingeborg
Published in Croatian medical journal (01.06.2017)
Published in Croatian medical journal (01.06.2017)
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Journal Article
Web Resource
97 A novel missense mutation in SGSH gene causing Sanfillipo type 3A mucopolysaccharidosis
Sansović, Ivona, Odak, Ljubica, Bobinec, Adriana, Barišić, Ingeborg
Published in Archives of disease in childhood (11.10.2021)
Published in Archives of disease in childhood (11.10.2021)
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Journal Article
Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe
Barisic, Ingeborg, Boban, Ljubica, Akhmedzhanova, Diana, Bergman, Jorieke E.H., Cavero-Carbonell, Clara, Grinfelde, Ieva, Materna-Kiryluk, Anna, Latos-Bieleńska, Anna, Randrianaivo, Hanitra, Zymak-Zakutnya, Natalya, Sansovic, Ivona, Lanzoni, Monica, Morris, Joan K.
Published in European journal of medical genetics (01.09.2018)
Published in European journal of medical genetics (01.09.2018)
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Journal Article
98 Clinical exome sequencing in the diagnosis of autism spectrum disorder
Odak, Ljubica, Meašić, Ana-Marija, Bobinec, Adriana, Kero, Mijana, Sansović, Ivona, Vulin, Katarina, Tomić, Mirko, Barišić, Ingeborg
Published in Archives of disease in childhood (11.10.2021)
Published in Archives of disease in childhood (11.10.2021)
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Journal Article
84 RARE COPY NUMBER VARIANTS IN CONGENITAL HEART DEFECTS
Davidović, Maša, Pohovski, Leona Morožin, Rogulj, Nikolina Vidan, Sansovic, Ivona, Bobinec, Adriana, Meašić, Ana-Maria, Kero, Mijana, Boban, Ljubica, Malčić, Ivan, Barišic, Ingeborg
Published in Archives of disease in childhood (11.10.2021)
Published in Archives of disease in childhood (11.10.2021)
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Journal Article
Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia
Dumic, Katja K., Grubic, Zorana, Yuen, Tony, Wilson, Robert C., Kusec, Vesna, Barisic, Ingeborg, Stingl, Katarina, Sansovic, Ivona, Skrabic, Veselin, Dumic, Miroslav, New, Maria I.
Published in The Journal of steroid biochemistry and molecular biology (01.01.2017)
Published in The Journal of steroid biochemistry and molecular biology (01.01.2017)
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Journal Article
Comparison of the ABC and ACMG systems for variant classification
Houge, Gunnar, Bratland, Eirik, Aukrust, Ingvild, Tveten, Kristian, Žukauskaitė, Gabrielė, Sansovic, Ivona, Brea-Fernández, Alejandro J, Mayer, Karin, Paakkola, Teija, McKenna, Caoimhe, Wright, William, Markovic, Milica Keckarevic, Lildballe, Dorte L, Konecny, Michal, Smol, Thomas, Alhopuro, Pia, Gouttenoire, Estelle Arnaud, Obeid, Katharina, Todorova, Albena, Jankovic, Milena, Lubieniecka, Joanna M, Stojiljkovic, Maja, Buisine, Marie-Pierre, Haukanes, Bjørn Ivar, Lorans, Marie, Roomere, Hanno, Petit, François M, Haanpää, Maria K, Beneteau, Claire, Pérez, Belén, Plaseska-Karanfilska, Dijana, Rath, Matthias, Fuhrmann, Nico, Ferreira, Bibiana I, Stephanou, Coralea, Sjursen, Wenche, Maver, Aleš, Rouzier, Cécile, Chirita-Emandi, Adela, Gonçalves, João, Kuek, Wei Cheng David, Broly, Martin, Haer-Wigman, Lonneke, Thong, Meow-Keong, Tae, Sok-Kun, Hyblova, Michaela, den Dunnen, Johan T, Laner, Andreas
Published in European journal of human genetics : EJHG (22.05.2024)
Published in European journal of human genetics : EJHG (22.05.2024)
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Journal Article
Clinically relevant copy number variants in children with congenital anomalies
Sansovic, Ivona, Boban, Ljubica, Ivankov, Ana-Maria, Bobinec, Adriana, Barišic, Ingeborg
Published in European journal of medical genetics (01.09.2018)
Published in European journal of medical genetics (01.09.2018)
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Journal Article
Chromosomal microarray in clinical diagnosis: A study of 337 patients with congenital anomalies and developmental delays or intellectual disability
Sansovic, Ivona, Ivankov, Ana-Maria, Bobinec, Adriana, Kero, Mijana, Barisic, Ingeborg
Published in Croatian medical journal (01.06.2017)
Published in Croatian medical journal (01.06.2017)
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Journal Article
De novo složena kromosomska preraspodjela u regiji 2q32q35
Ivankov, Ana-Maria, Bobinec, Adriana, Boban, Ljubica, Sansović, Ivona, Barišić, Ingeborg
Published in Paediatria Croatica (22.06.2017)
Published in Paediatria Croatica (22.06.2017)
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