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	1.	Expanding the phenotype of thrombocytopenia absent radius syndrome with hypospadias. [electronic resource] by Miertuš, Ján Maltese, Paolo Enrico Hýblová, Michaela Tomková, Erika Ďurovčíková, Darina Rísová, Vanda Bertelli, Matteo Producer: 20201026 In: Journal of biotechnology vol. 311 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome. [electronic resource] by Miertus, Jan Borozdin, Wiktor Frecer, Vladimir Tonini, Giorgio Bertok, Sara Amoroso, Antonio Miertus, Stanislav Kohlhase, Jürgen Producer: 20070402 In: Human genetics vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Diagnostic and therapeutic implements based on advanced Biotechnology should be available in low-income countries. [electronic resource] by Bertelli, Matteo Paolacci, Stefano Beccari, Tommaso Dundar, Munis Sozanski, Gabriella Miertus, Stanislav Miertus, Jan Luzzatto, Lucio Producer: 20201023 In: Acta bio-medica : Atenei Parmensis vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Oguchi type I caused by a homozygous missense variation in the SAG gene. [electronic resource] by Colombo, Leonardo Abeshi, Andi Maltese, Paolo E Frecer, Vladimir Miertuš, Jan Cerra, Davide Bertelli, Matteo Rossetti, Luca Producer: 20200120 In: European journal of medical genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report. [electronic resource] by Demori, Eliana Devescovi, Raffaella Benussi, Daniela Gambel Dolce, Silvia Carrozzi, Marco Villa, Nicoletta Miertus, Jan Amoroso, Antonio Pecile, Vanna Producer: 20050208 In: American journal of medical genetics. Part A vol. 130A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1. [electronic resource] by Robbiano, Angela Frecer, Vladimir Miertus, Jan Zadro, Cristina Ulivi, Sheila Bevilacqua, Elena Mandrile, Giorgia De Marchi, Mario Miertus, Stanislav Amoroso, Antonio Producer: 20110120 In: Journal of nephrology vol. 23 Availability: No items available. Save to lists Add to cart (remove)
	7.	Syndromic infertility. [electronic resource] by Guerri, Giulia Maniscalchi, Tiziana Barati, Shila Dhuli, Kristjana Busetto, Gian Maria Del Giudice, Francesco De Berardinis, Ettore De Antoni, Luca Miertus, Jan Bertelli, Matteo Producer: 20201023 In: Acta bio-medica : Atenei Parmensis vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Hydroxytyrosol: A natural compound with promising pharmacological activities. [electronic resource] by Bertelli, Matteo Kiani, Aysha Karim Paolacci, Stefano Manara, Elena Kurti, Danjela Dhuli, Kristjana Bushati, Vilma Miertus, Jan Pangallo, Domenico Baglivo, Mirko Beccari, Tommaso Michelini, Sandro Producer: 20200907 In: Journal of biotechnology vol. 309 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology. [electronic resource] by Frecer, Vladimir Iarossi, Giancarlo Salvetti, Anna Paola Maltese, Paolo Enrico Delledonne, Giulia Oldani, Marta Staurenghi, Giovanni Falsini, Benedetto Minnella, Angelo Maria Ziccardi, Lucia Magli, Adriano Colombo, Leonardo D'Esposito, Fabiana Miertus, Jan Viola, Francesco Attanasio, Marcella Maggio, Emilia Bertelli, Matteo Producer: 20200813 In: Journal of translational medicine vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism. [electronic resource] by Murakami, Tomoko Hosomi, Naoko Oiso, Naoki Giovannucci-Uzielli, Maria Luisa Aquaron, Robert Mizoguchi, Masako Kato, Atsushi Ishii, Masamitsu Bitner-Glindzicz, Maria Barnicoat, Angela Wilson, Louise Tsukamoto, Katsuhiko Ueda, Hiroshi Mancini, Anthony J Suzuki, Tamio Riley, Jacquely Miertus, Jan Camargo, Mauricio Santoro-Zea, Alexandra Atkin, Joan Fukai, Kazuyoshi Producer: 20050426 In: The Journal of investigative dermatology vol. 124 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. [electronic resource] by Michalk, Anne Stricker, Sigmar Becker, Jutta Rupps, Rosemarie Pantzar, Tapio Miertus, Jan Botta, Giovanni Naretto, Valeria G Janetzki, Catrin Yaqoob, Nausheen Ott, Claus-Eric Seelow, Dominik Wieczorek, Dagmar Fiebig, Britta Wirth, Brunhilde Hoopmann, Markus Walther, Marisa Körber, Friederike Blankenburg, Markus Mundlos, Stefan Heller, Raoul Hoffmann, Katrin Producer: 20080317 In: American journal of human genetics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)