Výsledky vyhledávání - Fabio Sirchia

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  1. 1
    Mitochondrial Complex I Deficiency: Unraveling the Relevance of <scp><i>NDUFAF1</i></scp> in Pediatric Hypertrophic Cardiomyopathy

    Mitochondrial Complex I Deficiency: Unraveling the Relevance of <scp><i>NDUFAF1</i></scp> in Pediatric Hypertrophic Cardiomyopathy Autor Silvia Kalantari, Daniele Veraldi, Davide Politano, Antonia Apicella, Riccardo Castagnoli, Thomas Foiadelli, Fulvio D’Abrusco, Elisa Giorgio, Angela Berardinelli, Alessia Claudia Codazzi, Gian Luigi Marseglia, Enza Maria Valente, Fabio Sirchia

    Vydáno 2025
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  2. 2
    Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe

    Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe Autor Fabio Sirchia, Daniele Carrieri, Sandi Dheensa, Caroline Benjamin, Hülya Kayserili, Christophe Cordier, Carla van El, Peter D. Turnpenny, Béla Melegh, Álvaro Mendes, Tanya F. Halbersma-Konings, Irene M. van Langen, Anneke Lucassen, Angus Clarke, Francesca Forzano, Susan Kelly

    Vydáno 2018
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  3. 3
    Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease

    Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease Autor C. David, Mihaly Badonyi, Robin Kechiche, Antonella Insalaco, Marco Zecca, Fabrizio De Benedetti, Simona Orcesi, Luisa Chiapparini, Patrizia Comoli, Silvia Federici, Marco Gattorno, Monia Ginevrino, Elisa Giorgio, Valentina Matteo, Patricia Morán‐Álvarez, Davide Politano, Giusi Prencipe, Fabio Sirchia, Stefano Volpi, Cécile Masson, Gillian Rice, Marie‐Louise Frémond, Alice Lepelley, Joseph A. Marsh, Yanick J. Crow

    Vydáno 2024
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  4. 4
    GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

    GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases Autor Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Pilar Caro, Ibrahim M. Abdelrazek, Jean Tori Pantel, Merle ten Hagen, Meow‐Keong Thong, Rifhan Azwani Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jingmei Li, Behnam Javanmardi, Alexej Knaus, Annette Uwineza, Cordula Knopp, Tinatin Tkemaladze, Miriam Elbracht, Larissa Mattern, Rami Abou Jamra, Clara Velmans, Vincent Strehlow, Maureen Jacob, Angela Peron, Cristina Dias, Beatriz Nunes, Thainá Vilella, Isabel Furquim Pinheiro, Chong Ae Kim, Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain, Karolina Chwiałkowska, Mirosław Kwaśniewski, Ramy Saad, Sarah Wiethoff, Himanshu Goel, Clara Sze-Man Tang, Anna Hau, Tahsin Stefan Barakat, Przemysław Panek, Amira Nabil, Julia Suh, Frederik Braun, Israel Gomy, Luisa Averdunk, Ekanem N. Ekure, Gaber Bergant, Borut Peterlin, Claudio Graziano, Nagwa E. A. Gaboon, Moisés Ó. Fiesco-Roa, Alessandro Spinelli, Nina‐Maria Wilpert, Prasit Phowthongkum, Nergis Güzel, Tobias B. Haack, Rana Bitar, Andreas Tzschach, Agustí Rodríguez‐Palmero, Theresa Brunet, Sabine Rudnik–Schöneborn, Silvina Contreras‐Capetillo, Ava Oberlack, Carole Samango‐Sprouse, Teresa Sadeghin, Margaret Olaya, Konrad Platzer, Artem Borovikov, Franziska Schnabel, Lara Heuft, Vera Herrmann, Renske Oegema, Nour Elkhateeb, Sheetal Kumar, Katalin Komlósi, Khoushoua Mohamed, Silvia Kalantari, Fabio Sirchia, Antonio Federico Martínez‐Monseny, Matthias Höller, Louiza Toutouna, Amal Mohamed, Amaia Lasa‐Aranzasti, John A. Sayer, Nadja Ehmke, Magdalena Danyel, Henrike L. Sczakiel, Sarina Schwartzmann, Felix Boschann, Max Zhao, R. Adam, Lara Einicke, Denise Horn, Kee Seang Chew, Choy Chen Kam, Miray Karakoyun

    Vydáno 2024
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