Search Results - "Pohovski, Leona Morožin"

Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report by Odak, Ljubica, Barisić, Ingeborg, Morozin Pohovski, Leona, Riegel, Mariluce, Schinzel, Albert

“…We report on the 10-year follow-up and clinical, cytogenetic, and molecular investigation of a girl admitted for evaluation because of speech delay, learning…”
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Screening of patients at risk for 22q11 deletion by Barisić, Ingeborg, Morozin Pohovski, Leona, Petković, Iskra, Cvetko, Zeljko, Stipancić, Gordana, Bagatin, Marijo

“…The aim of this study was to determine whether deletion 22q11.2 studies should become apart of a standardized diagnostic workup for selected groups of at risk…”
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The first case report of distal 16p12.1p11.2 trisomy and proximal 16p11.2 tetrasomy inherited from both parents by Morožin Pohovski, Leona, Sansović, Ivona, Vulin, Katarina, Odak, Ljubica

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Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia by Sansović, Ivona, Meašić, Ana-Maria, Bobinec, Adriana, Morožin Pohovski, Leona, Odak, Ljubica, Vulin, Katarina, Lozić, Bernarda, Kero, Mijana, Huljev Frković, Sanda, Pušeljić, Silvija

“…To determine the spectrum and frequency of disease-causing variants in patients with non-syndromic hearing loss (NSHL) and to investigate the diagnostic yield…”
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84 RARE COPY NUMBER VARIANTS IN CONGENITAL HEART DEFECTS by Davidović, Maša, Pohovski, Leona Morožin, Rogulj, Nikolina Vidan, Sansovic, Ivona, Bobinec, Adriana, Meašić, Ana-Maria, Kero, Mijana, Boban, Ljubica, Malčić, Ivan, Barišic, Ingeborg

“…To detect copy number variants (CNVs) in patients with congenital heart defects (CHD) and identify potential novel candidate genes involved in CHD…”
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Development of genetics in the world and in Croatia--forty years of the Croatian Society of Human Genetics of the Croatian Medical Association by Zergollern-Ĉupak, Ljiljana, Barišić, Ingeborg, Moronin Pohovski, Leona

“…Resulting from several basic scientific disciplines, genetics has made impressive progress in the last century by discoveries of the heredity rules and genome…”
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The first case report of distal 16p12.1p11.2 trisomy and proximal 16p11.2 tetrasomy inherited from both parents by Morožin Pohovski, Leona, Sansović, Ivona, Vulin, Katarina, Odak, Ljubica

“…Recurrent copy number variants in the chromosomal region 16p11.2 are among the most frequent genetic causes of neurodevelopmental disorders. The increasing…”
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Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability by Pohovski, Leona Morozin, Dumic, Katja K, Odak, Ljubica, Barisic, Ingeborg

“…Array based comparative genomic hybridization (arrayCGH) has been increasingly used as the method of choice for diagnosis of patients with unexplained…”
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Development of Genetics in the World and in Croatia – Forty Years of the Croatian Society of Human Genetics of the Croatian Medical Association by Zergollern Čupak, Ljiljana, Barišić, Ingeborg, Morožin Pohovski, Leona

“…Resulting from several basic scientific disciplines, genetics has made impressive progress in the last century by discoveries of the heredity rules and genome…”
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