Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome von Kortüm, Fanny, Caputo, Viviana, Bauer, Christiane K, Stella, Lorenzo, Ciolfi, Andrea, Alawi, Malik, Bocchinfuso, Gianfranco, Flex, Elisabetta, Paolacci, Stefano, Dentici, Maria Lisa, Grammatico, Paola, Korenke, Georg Christoph, Leuzzi, Vincenzo, Mowat, David, Nair, Lal D V, Nguyen, Thi Tuyet Mai, Thierry, Patrick, White, Susan M, Dallapiccola, Bruno, Pizzuti, Antonio, Campeau, Philippe M, Tartaglia, Marco, Kutsche, Kerstin

Volltext

Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome von Temel, Sehime Gulsun, Ergoren, Mahmut Cerkez, Manara, Elena, Paolacci, Stefano, Tuncel, Gulten, Gul, Seref, Bertelli, Matteo

Volltext

Molecular pathways involved in lymphedema: Hydroxytyrosol as a candidate natural compound for treating the effects of lymph accumulation von Bertelli, Matteo, Kiani, Aysha Karim, Paolacci, Stefano, Manara, Elena, Dautaj, Astrit, Beccari, Tommaso, Michelini, Sandro

Volltext

Next-generation sequencing: toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure von Cannarella, Rossella, Condorelli, Rosita A., Paolacci, Stefano, Barbagallo, Federica, Guerri, Giulia, Bertelli, Matteo, La Vignera, Sandro, Calogero, Aldo E.

Volltext

Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series von Cannarella, Rossella, Gusmano, Carmelo, Condorelli, Rosita A, Bernini, Andrea, Kaftalli, Jurgen, Maltese, Paolo Enrico, Paolacci, Stefano, Dautaj, Astrit, Marceddu, Giuseppe, Bertelli, Matteo, La Vignera, Sandro, Calogero, Aldo E

Volltext

Low Efficacy of Genetic Tests for the Diagnosis of Primary Lymphedema Prompts Novel Insights into the Underlying Molecular Pathways von Bonetti, Gabriele, Paolacci, Stefano, Samaja, Michele, Maltese, Paolo Enrico, Michelini, Sandro, Michelini, Serena, Michelini, Silvia, Ricci, Maurizio, Cestari, Marina, Dautaj, Astrit, Medori, Maria Chiara, Bertelli, Matteo

Volltext

A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa von Ceccarini, Maria Rachele, Precone, Vincenza, Manara, Elena, Paolacci, Stefano, Maltese, Paolo Enrico, Benfatti, Valentina, Dhuli, Kristjana, Donato, Kevin, Guerri, Giulia, Marceddu, Giuseppe, Chiurazzi, Pietro, Dalla Ragione, Laura, Beccari, Tommaso, Bertelli, Matteo

Volltext

Immunophenotypical characterization of paraneoplastic neurological syndrome patients: a multicentric study von Lorusso, Lorenzo, Precone, Vincenza, Hart, Ian K, Giometto, Bruno, Pezzani, Raffaele, Ngonga, Gaelle K, Paolacci, Stefano, Ferrari, Daniela, Ricevuti, Giovanni, Marshall, Ernie, Bertelli, Matteo

Volltext

Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel von Precone, Vincenza, Cannarella, Rossella, Paolacci, Stefano, Busetto, Gian Maria, Beccari, Tommaso, Stuppia, Liborio, Tonini, Gerolamo, Zulian, Alessandra, Marceddu, Giuseppe, Calogero, Aldo E., Bertelli, Matteo

Volltext

Molecular Aspects of Regional Pain Syndrome von Bertelli, M., Sullivan, Stephanie G. B., Guardamagna, Vittorio A., Miotti, Danilo, Prestamburgo, Domenico, Paolacci, Stefano, Sadia, Hajra, Baronio, Manuela, Natalini, Giuseppe

Volltext

Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder von Gelener, Pınar, Severino, Mariasavina, Diker, Sevda, Teralı, Kerem, Tuncel, Gulten, Tuzlalı, Hatice, Manara, Elena, Paolacci, Stefano, Bertelli, Matteo, Ergoren, Mahmut Cerkez

Volltext

Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study von Manara, Elena, Paolacci, Stefano, D'Esposito, Fabiana, Abeshi, Andi, Ziccardi, Lucia, Falsini, Benedetto, Colombo, Leonardo, Iarossi, Giancarlo, Pilotta, Alba, Boccone, Loredana, Guerri, Giulia, Monica, Marica, Marta, Balzarini, Maltese, Paolo Enrico, Buzzonetti, Luca, Rossetti, Luca, Bertelli, Matteo

Volltext

Etiopathogenesis of sacroiliitis: implications for assessment and management von Baronio, Manuela, Sadia, Hajra, Paolacci, Stefano, Prestamburgo, Domenico, Miotti, Danilo, Guardamagna, Vittorio A., Natalini, Giuseppe, Bertelli, Matteo

Volltext

Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment von Paolacci, Stefano, Kiani, Aysha Karim, Manara, Elena, Beccari, Tommaso, Ceccarini, Maria Rachele, Stuppia, Liborio, Chiurazzi, Pietro, Dalla Ragione, Laura, Bertelli, Matteo

Volltext

A next generation sequencing custom gene panel designed to distinguish isolated polydactyly from syndromic polydactyly during prenatal diagnosis von Paolacci, Stefano, Faletra, Flavio, Maltese, Paolo Enrico, Quadrifoglio, Mariachiara, Bertelli, Matteo

Volltext

The Biennial report: The collaboration between MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases and Near East University DESAM Institute von Ergoren, Mahmut Cerkez, Manara, Elena, Paolacci, Stefano, Cobanogullari, Havva, Tuncel, Gulten, Betmezoglu, Meryem, Bertelli, Matteo, Sanlidag, Tamer

Volltext

From vascular biology to vascular medicine von Paolacci, Stefano, Rakhmanov, Yeltay, Maltese, Paolo Enrico, Bertelli, Matteo

Volltext

Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia von Ergoren, Mahmut C., Eren, Erdal, Manara, Elena, Paolacci, Stefano, Tulay, Pinar, Sag, Sebnem O., Bertelli, Matteo, Mocan, Gamze, Temel, Sehime Gulsun

Volltext

Genetic testing for lymphatic malformations with or without primary lymphedema von Paolacci, Stefano, Rakhmanov, Yeltay, Maltese, Paolo Enrico, Zulian, Alessandra, Michelini, Sandro, Bertelli, Matteo

Volltext

Hydroxytyrosol: A natural compound with promising pharmacological activities von 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

Volltext