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Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.

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第一作者: Flavia,Palombo
第一单位: Medical Genetics Sant'Orsola, Malpighi University Hospital of Bologna, Via Massarenti 9, 40138, Bologna, Italy.;IRCCS Istituto Delle Scienze Neurologiche Di Bologna, UOC Clinica Neurologica, Bologna, Italy.
作者单位: Medical Genetics Sant'Orsola, Malpighi University Hospital of Bologna, Via Massarenti 9, 40138, Bologna, Italy.;IRCCS Istituto Delle Scienze Neurologiche Di Bologna, UOC Clinica Neurologica, Bologna, Italy. [1] Medical Genetics Sant'Orsola, Malpighi University Hospital of Bologna, Via Massarenti 9, 40138, Bologna, Italy. [2] Department of Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman. [3] Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences, Isfahan, Iran.;Craniofacial and Cleft Research Center, Isfahan University of Medical Sciences, Isfahan, Iran. [4] Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy. [5] IRCCS Istituto Delle Scienze Neurologiche Di Bologna, UOC Clinica Neurologica, Bologna, Italy.;Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy. [6] Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.;UOC Neuropsichiatria Infantile, DAI Materno-Infantile, AOUI Verona, Verona, Italy. [7] Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.;Neuropsychiatry Sant'Orsola-Malpighi University Hospital of Bologna, Bologna, Italy. [8] ASP7 Ragusa, Ragusa, Italy. [9] Department of Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.;Department of ENT, Al Nahdha Hospital, Ministry of Health, Muscat, Oman. [10] Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences, Isfahan, Iran. [11] Department of Medical Sciences, University of Torino, Turin, Italy. [12] Child Neuropsychiatry Unit, Department of Medicine & Surgery, University of Parma, Parma, Italy. [13] Medical Genetics Sant'Orsola, Malpighi University Hospital of Bologna, Via Massarenti 9, 40138, Bologna, Italy. tommaso.pippucci@unibo.it. [14] Medical Genetics Sant'Orsola, Malpighi University Hospital of Bologna, Via Massarenti 9, 40138, Bologna, Italy.;Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy. [15]
DOI 10.1007/s00439-020-02187-7
PMID 32488467
发布时间 2020-10-05
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