Granulosa Cell Tumors of the Ovary and Inhibin B by Lyubimova, N. V., Beyshembaev, A. M., Kushlinskiy, D. N., Zordania, K. I., Adamyan, L. V.

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Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control by Krabbi, K., Uudelepp, M.-L., Joost, K., Zordania, R., Õunap, K.

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Natural history of KBG syndrome in a large European cohort by Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Atallah, Isis, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, Pinto, Anna Maria

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Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients by Hoornaert, Kristien P, Vereecke, Inge, Dewinter, Chantal, Rosenberg, Thomas, Beemer, Frits A, Leroy, Jules G, Bendix, Laila, Björck, Erik, Bonduelle, Maryse, Boute, Odile, Cormier-Daire, Valerie, De Die-Smulders, Christine, Dieux-Coeslier, Anne, Dollfus, Hélène, Elting, Mariet, Green, Andrew, Guerci, Veronica I, Hennekam, Raoul C M, Hilhorts-Hofstee, Yvonne, Holder, Muriel, Hoyng, Carel, Jones, Kristi J, Josifova, Dragana, Kaitila, Ilkka, Kjaergaard, Suzanne, Kroes, Yolande H, Lagerstedt, Kristina, Lees, Melissa, LeMerrer, Martine, Magnani, Cinzia, Marcelis, Carlo, Martorell, Loreto, Mathieu, Michèle, McEntagart, Meriel, Mendicino, Angela, Morton, Jenny, Orazio, Gabrielli, Paquis, Véronique, Reish, Orit, Simola, Kalle O J, Smithson, Sarah F, Temple, Karen I, Van Aken, Elisabeth, Van Bever, Yolande, van den Ende, Jenneke, Van Hagen, Johanna M, Zelante, Leopoldo, Zordania, Riina, De Paepe, Anne, Leroy, Bart P, De Buyzere, Marc, Coucke, Paul J, Mortier, Geert R

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Hearing impairment in Estonia: An algorithm to investigate genetic causes in pediatric patients by Teek, R, Kruustük, K, Žordania, R, Joost, K, Kahre, T, Tõnisson, N, Nelis, M, Zilina, O, Tranebjaerg, L, Reimand, T, Õunap, K

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Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal... by Õunap, K., Uibo, O., Zordania, R., Kiho, L., Ilus, T., Õiglane‐Shlik, E., Bartsch, O.

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A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children by Joost, K., Rodenburg, R.J., Piirsoo, A., van den Heuvel, L., Žordania, R., Põder, H., Talvik, I., Kilk, K., Soomets, U., Õunap, K.

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Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia by Joost, K., Õunap, K., Žordania, R., Uudelepp, M.-L., Olsen, R. K., Kall, K., Kilk, K., Soomets, U., Kahre, T.

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Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency by Joost, K., Tammur, P., Teek, R., Žilina, O., Peters, M., Kreile, M., Lace, B., Žordania, R., Talvik, I., Õunap, K.

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Serum lipid and apolipoprotein profiles in newborns and six-year-old children: The Tallinn Young Family Study by Kurvinen, E., Aasvee, K., Zordania, R., Jauhiainen, M., Sundvall, J.

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Parents’ Satisfaction with Medical and Social Assistance Provided to Children with Down Syndrome: Experience in Estonia by Reimand, Tiia, Uibo, Oivi, Zordania, Riina, Palmiste, Veronika, Õunap, Katrin, Talvik, Tiina

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Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal... by Õunap, K., Uibo, O., Zordania, R., Kiho, L., Ilus, T., Õiglane-Shlik, E., Bartsch, O.

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