A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss by Spiros Vittas, Maria Bisba, Georgia Christopoulou, Loukia Apostolakopoulou, Roser Pons, Pantelis Constantoulakis

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Cardiac profile of asymptomatic children with Becker and Duchenne muscular dystrophy under treatment with steroids and with/without perindopril by Sophie Mavrogeni, Aikaterini Giannakopoulou, Antigoni Papavasiliou, George Markousis-Mavrogenis, Roser Pons, Evangelos Karanasios, Michel Noutsias, Genovefa Kolovou, George Papadopoulos

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Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children by Lamprini Nasi, Alexios Alexopoulos, Eleftheria Kokkinou, Kleoniki Roka, Maria Tzetis, Maria Tsipi, Talia Kakourou, Christina Kanaka-Gantenbein, George Chrousos, Antonis Kattamis, Roser Pons

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Cardiovascular Magnetic Resonance Imaging Patterns in Rare Cardiovascular Diseases by George Markousis-Mavrogenis, Aikaterini Giannakopoulou, Antonios Belegrinos, Maria Roser Pons, Maria Bonou, Vasiliki Vartela, Antigoni Papavasiliou, Aikaterini Christidi, Soultana Kourtidou, Genovefa Kolovou, Flora Bacopoulou, George P. Chrousos, Sophie I. Mavrogeni

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Kidney cancer PDOXs reveal patient‐specific pro‐malignant effects of antiangiogenics and its molecular traits by Lidia Moserle, Roser Pons, Mar Martínez‐Lozano, Gabriela A Jiménez‐Valerio, August Vidal, Cristina Suárez, Enrique Trilla, José Jiménez, Inés deTorres, Joan Carles, Jordi Senserrich, Susana Aguilar, Luis Palomero, Alberto Amadori, Oriol Casanovas

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Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group by Joerg Klepper, Cigdem Akman, Marisa Armeno, Stéphane Auvin, Mackenzie Cervenka, Helen J. Cross, Valentina De Giorgis, Adela Della Marina, Kristin Engelstad, Nicole Heussinger, Eric H. Kossoff, Wilhelmina G. Leen, Baerbel Leiendecker, Umrao R. Monani, Hirokazu Oguni, Elizabeth Neal, Juan M. Pascual, Toni S. Pearson, Roser Pons, Ingrid E. Scheffer, Pierangelo Veggiotti, Michél Willemsen, Sameer M. Zuberi, Darryl C. De Vivo

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Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies by Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)

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Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines by Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Mario Mastrangelo, Roser Pons, Jennifer Friedman, Saadet Mercimek-Andrews, Suet-Na Wong, Toni S. Pearson, Dimitrios I. Zafeiriou, Jan Kulhánek, Manju A. Kurian, Eduardo López-Laso, Mari Oppebøen, Sebile Kılavuz, Tessa Wassenberg, Helly Goez, Sabine Scholl-Bürgi, Francesco Porta, Tomáš Honzík, René Santer, Alberto Burlina, H. Serap Sivri, Vincenzo Leuzzi, Georg F. Hoffmann, Kathrin Jeltsch, Daniel Hübschmann, Sven F. Garbade, iNTD Registry Study Group, Angeles García-Cazorla, Thomas Opladen

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