换一批
第一作者：
Lorenzo,Loberti
第一单位：
Medical Genetics, University of Siena, Siena 53100, Italy.;Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.;Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.
作者：
Lorenzo,Loberti [1]
;
Lucia Pia,Bruno [2]
;
Stefania,Granata [1]
;
Gabriella,Doddato [2]
;
Sara,Resciniti [2]
;
Francesca,Fava [1]
;
Michele,Carullo [2]
;
Elisa,Rahikkala [3]
;
Guillaume,Jouret [4]
;
Leonie A,Menke [5]
;
Damien,Lederer [6]
;
Pascal,Vrielynck [7]
;
Lukáš,Ryba [8]
;
Nicola,Brunetti-Pierri [9]
;
Amaia,Lasa-Aranzasti [10]
;
Anna Maria,Cueto-González [10]
;
Laura,Trujillano [10]
;
Irene,Valenzuela [10]
;
Eduardo F,Tizzano [10]
;
Alessandro Mauro,Spinelli [11]
;
Irene,Bruno [12]
;
Aurora,Currò [13]
;
Franco,Stanzial [13]
;
Francesco,Benedicenti [13]
;
Diego,Lopergolo [14]
;
Filippo Maria,Santorelli [14]
;
Constantia,Aristidou [15]
;
George A,Tanteles [15]
;
Isabelle,Maystadt [6]
;
Tinatin,Tkemaladze [16]
;
Tiia,Reimand [17]
;
Helen,Lokke [17]
;
Katrin,Õunap [17]
;
Maria K,Haanpää [18]
;
Andrea,Holubová [8]
;
Veronika,Zoubková [8]
;
Martin,Schwarz [8]
;
Riina,Žordania [19]
;
Kai,Muru [17]
;
Laura,Roht [17]
;
Annika,Tihveräinen [20]
;
Rita,Teek [19]
;
Ulvi,Thomson [21]
;
Isis,Atallah [22]
;
Andrea,Superti-Furga [22]
;
Sabrina,Buoni [23]
;
Roberto,Canitano [23]
;
Valeria,Scandurra [23]
;
Annalisa,Rossetti [24]
;
Salvatore,Grosso [24]
;
Roberta,Battini [25]
;
Margherita,Baldassarri [2]
;
Maria Antonietta,Mencarelli [26]
;
Caterina Lo,Rizzo [26]
;
Mirella,Bruttini [1]
;
Francesca,Mari [1]
;
Francesca,Ariani [1]
;
Alessandra,Renieri [1]
;
Anna Maria,Pinto [26]
作者单位：
Medical Genetics, University of Siena, Siena 53100, Italy.;Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.;Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.
[1]
Medical Genetics, University of Siena, Siena 53100, Italy.;Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.
[2]
Department of Clinical Genetics, PEDEGO Research Unit, and Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu 90014, Finland.
[3]
National Center of Genetics (NCG), Laboratoire national de santé (LNS), L-3555 Dudelange, Luxembourg.
[4]
Amsterdam UMC location University of Amsterdam, Department of Pediatrics, Amsterdam 1100, The Netherlands.
[5]
Institut de Pathologie et de Génétique; Centre de Génétique Humaine, Gosselies 6041, Belgium.
[6]
William Lennox Neurological Hospital, Reference Center for Refractory Epilepsy UCLouvain, Ottignies 1340, Belgium.
[7]
Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.
[8]
Department of Translational Medicine, University of Naples "Federico II", Naples 80125, Italy.
[9]
Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.
[10]
Regional Coordinating Center for Rare Diseases, Udine 33100, Italy.
[11]
Institute for Maternal and Child Health, Trieste 34100, Italy.
[12]
Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.
[13]
IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa 98125, Italy.
[14]
Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics, Nicosia 1683, Cyprus.
[15]
Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi 0162, Georgia.
[16]
Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.;Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.
[17]
Department of Genomics and Clinical Genetics, Turku University Hospital, Turku 20500, Finland.
[18]
Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.
[19]
Department of Child Neurology, Turku University Hospital, Turku 20500, Finland.
[20]
Centre for Neurological Diseases, West-Tallinn Central Hospital, Tallinn 10617, Estonia.
[21]
Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, 1011 Lausanne, Switzerland.
[22]
Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy.
[23]
Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena 53100, Italy.
[24]
IRCCS Stella Maris Foundation, Department of Developmental Neuroscience, Pisa 98125, Italy.;Department of Clinical and Experimental Medicine, University of Pisa, Pisa 56122, Italy.
[25]
Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.
[26]
医学主题词
妊娠(Pregnancy);女(雌)性(Female);人类(Humans);面容(Facies);牙畸形(Tooth Abnormalities);骨疾病, 发育性(Bone Diseases, Developmental);畸形, 多发性(Abnormalities, Multiple);比较基因组杂交(Comparative Genomic Hybridization);阻遏蛋白质类(Repressor Proteins);表型(Phenotype);侏儒症(Dwarfism)
DOI
10.1093/hmg/ddac167
PMID
35861666
发布时间
2023-01-20
- 浏览1
Human molecular genetics
Human molecular genetics
4131-4142页
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