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作者：
Fátima,Lopes [1]
;
Fátima,Torres [2]
;
Gabriela,Soares [3]
;
Mafalda,Barbosa [4]
;
João,Silva [5]
;
Frederico,Duque [5]
;
Miguel,Rocha [6]
;
Joaquim,Sá [7]
;
Guiomar,Oliveira [8]
;
Maria João,Sá [9]
;
Teresa,Temudo [5]
;
Susana,Sousa [10]
;
Carla,Marques [11]
;
Sofia,Lopes [12]
;
Catarina,Gomes [13]
;
Gisela,Barros [5]
;
Arminda,Jorge [14]
;
Felisbela,Rocha [3]
;
Cecília,Martins [15]
;
Sandra,Mesquita [12]
;
Susana,Loureiro [13]
;
Elisa Maria,Cardoso [5]
;
Maria José,Cálix [6]
;
Andreia,Dias [16]
;
Cristina,Martins [1]
;
Céu R,Mota [2]
;
Diana,Antunes [10]
;
Juliette,Dupont [11]
;
Sara,Figueiredo [12]
;
Sónia,Figueiroa [1]
;
Susana,Gama-de-Sousa [2]
;
Sara,Cruz [1]
;
Adriana,Sampaio [2]
;
Paul,Eijk [1]
;
Marjan M,Weiss [2]
;
Bauke,Ylstra [17]
;
Paula,Rendeiro [18]
;
Purificação,Tavares [19]
;
Margarida,Reis-Lima [19]
;
Jorge,Pinto-Basto [17]
;
Ana Maria,Fortuna [20]
;
Patrícia,Maciel [20]
作者单位：
Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, 4710-057, Braga, Portugal.
[1]
ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
[2]
CGC Genetics, Porto, Portugal.
[3]
Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, Porto, Portugal.
[4]
Center for Medical Genetics Dr. Jacinto Magalhães, Porto Hospital Center, Praça Pedro Nunes, Porto, Portugal.
[5]
Unit for Multidisciplinary Research in Biomedicine, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, Porto, Portugal.
[6]
The Mindich Child Health & Development Institute and the Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
[7]
The Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
[8]
Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
[9]
Centro de Genética Preditiva e Preventiva - CGPP, Instituto de Biologia Molecular e Celular - IBMC, Universidade do Porto, Porto, Portugal.
[10]
Instituto de Investigação e Inovação em Saúde - i3S, Universidade do Porto, Porto, Portugal.
[11]
Unidade de Neurodesenvolvimento e Autismo do Serviço do Centro de Desenvolvimento da Criança and Centro de Investigação e Formação Clínica, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, 3041-80, Coimbra, Portugal.
[12]
University Clinic of Pediatrics and Institute for Biomedical Imaging and Life Science, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
[13]
Medical Genetics Unit, Hospital de Braga, Braga, Portugal.
[14]
Department of Medical Genetics, Hospital de Faro, Faro, Portugal.
[15]
Pediatric Neurology Department, Centro Materno-Infantil Centro Hospitalar do Porto, Porto, Portugal.
[16]
Development Unit, Pediatrics Service, Hospital Centre of Cova da Beira, Covilhã, Portugal.
[17]
CICS - Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal.
[18]
Department of Pediatrics, Médio Ave Hospital Center, Vila Nova de Famalicão, Portugal.
[19]
Department of Pediatrics, Hospital S. Teotónio, Tondela/Viseu Hospital Center, Viseu, Portugal.
[20]
Neuropaediatric Unit - Garcia de Orta Hospital, Almada, Portugal.
[21]
Pediatric and Neonatal Intensive Care, Department of Pediatrics, Porto Hospital Center, Porto, Portugal.
[22]
Department of Genetics, Hospital D. Estefânia, Lisboa-Norte Hospital Center, Lisbon, Portugal.
[23]
Genetics Service, Paediatric Department, University Hospital Santa Maria, Lisbon, Portugal.
[24]
Department of Pediatrics, Médio Ave Hospital Center, Santo Tirso, Portugal.
[25]
Division of Pediatric Neurology, Department of Child and Adolescent, Centro Hospitalar do Porto e Hospital de Santo António, Porto, Portugal.
[26]
Neuropsychophysiology Lab, CIPsi, School of Psychology, University of Minho, Braga, Portugal.
[27]
Department of Pathology, VU University Medical Center, Amsterdam, 1007, MB, The Netherlands.
[28]
Department of Clinical Genetics, VU University Medical Center, Amsterdam, 1007, MB, The Netherlands.
[29]
GDPN- SYNLAB, Porto, Portugal.
[30]
Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, 4710-057, Braga, Portugal. pmaciel@med.uminho.pt.
[31]
ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal. pmaciel@med.uminho.pt.
[32]
主题词
染色体畸变(Chromosome Aberrations);比较基因组杂交(Comparative Genomic Hybridization);DNA拷贝数变异(DNA Copy Number Variations);女(雌)性(Female);遗传关联研究(Genetic Association Studies);基因组学(Genomics);组蛋白赖氨酸N-甲基转移酶(Histone-Lysine N-Methyltransferase);人类(Humans);男(雄)性(Male);系谱(Pedigree);表型(Phenotype)
DOI
10.1186/s13023-019-1135-0
PMID
31277718
发布时间
2020-04-27
- 浏览10
Orphanet journal of rare diseases
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