The Importance of Genetic Testing for Familial Hypercholesterolemia: A Pediatric Pilot Study by Andreea Teodora Constantin, Corina Delia, Lucia Maria Roșu, Ioana Roșca, Ioana Streață, Anca-Lelia Riza, Ioan Gherghina

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Connecting the Dots: FGF21 as a Potential Link between Obesity and Cardiovascular Health in Acute Coronary Syndrome Patients by Cristina Elena Negroiu, Anca-Lelia Riza, Ioana Streață, Iulia Tudorașcu, Cristina Maria Beznă, Adrian Ionuț Ungureanu, Suzana Dănoiu

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Assessing Putative Markers of Colorectal Cancer Stem Cells: From Colonoscopy to Gene Expression Profiling by Irina Florina Cherciu Harbiyeli, Daniela Elena Burtea, Elena Tatiana Ivan, Ioana Streață, Elena Raluca Nicoli, Daniel Uscatu, Mircea-Sebastian Șerbănescu, Mihai Ioana, Peter Vilmann, Adrian Săftoiu

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<i>PAH</i> Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania by Alin Iuhas, Claudia Jurca, Kinga Kozma, Anca-Lelia Riza, Ioana Streață, Codruța Petcheși, Andra Dan, Cristian Sava, Andreea Balmoș, Cristian Marinău, Larisa Niulaș, Mihai Ioana, Marius Bembea

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Genetic Testing for Familial Hypercholesterolemia in a Pediatric Group: A Romanian Showcase by Andreea Teodora Constantin, Ioana Streata, Mirela Silvia Covăcescu, Anca Lelia Riza, Ioana Roșca, Corina Delia, Lucia Maria Tudor, Ștefania Dorobanțu, Adina Dragoș, Diana Ristea, Mihai Ioana, Ioan Gherghina

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The Value of Parental Karyotyping in Recurrent Pregnancy Loss Lies in Individual Risk Assessments by Gabriela Popescu-Hobeanu, Simona Serban Sosoi, Mihai Cucu, Ioana Streață, Amelia Dobrescu, Răzvan Pleșea, Anca Lelia Costache, Andreea Iordache, Bianca Petre-Mandache, Ștefania Tudorache, Alexandru Comănescu, Dominic Iliescu, Florin Burada

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Lack of Association Between BsmI and FokI Polymorphisms of the VDR Gene and Sporadic Colorectal Cancer in a Romanian Cohort—A Preliminary Study by Bianca Petre-Mandache, Emilia Burada, Mihai Gabriel Cucu, Diter Atasie, Anca-Lelia Riza, Ioana Streață, Radu Mitruț, Răzvan Pleșea, Amelia Dobrescu, Andrei Pîrvu, Gabriela Popescu-Hobeanu, Paul Mitruț, Florin Burada

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First Trimester Ultrasound Detection of Fetal Central Nervous System Anomalies by Delia Roxana Ungureanu, Roxana Cristina Drăgușin, Răzvan Grigoraș Căpitănescu, Lucian Zorilă, Anca Maria Istrate Ofițeru, Cristian Marinaș, Ciprian Laurențiu Pătru, Alexandru Cristian Comănescu, Maria Cristina Comănescu, Ovidiu Costinel Sîrbu, Maria-Sidonia Vrabie, Lorena Anda Dijmărescu, Ioana Streață, Florin Burada, Mihai Ioana, Alice Nicoleta Drăgoescu, Dominic Gabriel Iliescu

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Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability—Data from a Romanian Cohort by Ioana Streață, Alexandru Caramizaru, Anca-Lelia Riza, Simona Șerban-Sosoi, Andrei Pîrvu, Monica-Laura Cara, Mihai-Gabriel Cucu, Amelia Mihaela Dobrescu, Ro-NMCA-ID Group, CExBR Pediatric Neurology Obregia Group, CExBR Pediatric Neurology “V. Gomoiu” Hospital Group, Elena-Silvia Shelby, Adriana Albeanu, Florin Burada, Mihai Ioana

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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation by Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard

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