第一单位：
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
作者：
Marialetizia,Motta [1]
;
Giulia,Fasano [1]
;
Sina,Gredy [2]
;
Julia,Brinkmann [3]
;
Adeline Alice,Bonnard [4]
;
Pelin Ozlem,Simsek-Kiper [5]
;
Elif Yilmaz,Gulec [6]
;
Leila,Essaddam [7]
;
Gulen Eda,Utine [5]
;
Ingrid,Guarnetti Prandi [8]
;
Martina,Venditti [1]
;
Francesca,Pantaleoni [1]
;
Francesca Clementina,Radio [1]
;
Andrea,Ciolfi [1]
;
Stefania,Petrini [9]
;
Federica,Consoli [10]
;
Cédric,Vignal [11]
;
Denis,Hepbasli [2]
;
Melanie,Ullrich [2]
;
Elke,de Boer [12]
;
Lisenka E L M,Vissers [12]
;
Sami,Gritli [13]
;
Cesare,Rossi [14]
;
Alessandro,De Luca [10]
;
Saayda,Ben Becher [7]
;
Bruce D,Gelb [15]
;
Bruno,Dallapiccola [1]
;
Antonella,Lauri [1]
;
Giovanni,Chillemi [16]
;
Kai,Schuh [2]
;
Hélène,Cavé [4]
;
Martin,Zenker [3]
;
Marco,Tartaglia [17]
作者单位：
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
[1]
Institute of Physiology, University of Wuerzburg, 97070 Wuerzburg, Germany.
[2]
Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany.
[3]
Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, 75019 Paris, France; INSERM UMR 1131, Institut de Recherche Saint-Louis, Université de Paris, Paris, France.
[4]
Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Sihhiye, 06100 Ankara, Turkey.
[5]
Department of Medical Genetics, Health Sciences University, Istanbul Kanuni Sultan Suleyman Training and Research Hospital, 34303 Istanbul, Turkey.
[6]
Department of Pediatrics-PUC, Béchir Hamza Children's Hospital, Faculty of Medicine, University of Tunis El Manar, Jebbari 1007, Tunis, Tunisia.
[7]
Dipartimento per la Innovazione nei Sistemi Biologici, Agroalimentari e Forestali, Università Della Tuscia, 01100 Viterbo, Italy.
[8]
Confocal Microscopy Core Facility, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
[9]
Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
[10]
Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, 75019 Paris, France.
[11]
Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
[12]
Department of Immunology, Pasteur Institute of Tunis, 1002 Tunis-Belvédère, Tunisia.
[13]
Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
[14]
Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
[15]
Dipartimento per la Innovazione nei Sistemi Biologici, Agroalimentari e Forestali, Università Della Tuscia, 01100 Viterbo, Italy; Istituto di Biomembrane, Bioenergetica e Biotecnologie Molecolari, Centro Nazionale Delle Ricerche, 70126 Bari, Italy.
[16]
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net.
[17]
DOI
10.1016/j.ajhg.2021.09.007
PMID
34626534
发布时间
2022-05-06
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