BRAT1 mutations present with a spectrum of clinical severity.-论文-万方医学网

第一作者： Siddharth,Srivastava

第一单位： Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland.;Department of Neurology, The Johns Hopkins Hospital, Baltimore, Maryland.;Department of Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland.

作者： Siddharth,Srivastava ^[1] ; Heather E,Olson ^[2] ; Julie S,Cohen ^[3] ; Cynthia S,Gubbels ^[4] ; Sharyn,Lincoln ^[5] ; Brigette Tippin,Davis ^[6] ; Layla,Shahmirzadi ^[6] ; Siddharth,Gupta ^[3] ; Jonathan,Picker ^[5] ; Timothy W,Yu ^[4] ; David T,Miller ^[7] ; Janet S,Soul ^[8] ; Andrea,Poretti ^[9] ; SakkuBai,Naidu ^[1]

作者单位： Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland.;Department of Neurology, The Johns Hopkins Hospital, Baltimore, Maryland.;Department of Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland. ^[1] Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. ^[2] Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland. ^[3] Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.;Broad Institute of MIT and Harvard, Cambridge, Massachusetts. ^[4] Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. ^[5] Ambry Genetics, 15 Argonaut, Aliso Viejo, California. ^[6] Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.;Claritas Genomics, Cambridge, Massachusetts. ^[7] Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. ^[8] Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins Hospital, Baltimore, Maryland. ^[9]

医学主题词脑(Brain);小脑(Cerebellum);儿童(Child);儿童, 学龄前(Child, Preschool);比较基因组杂交(Comparative Genomic Hybridization);DNA突变分析(DNA Mutational Analysis);癫痫(Epilepsy);面容(Facies);女(雌)性(Female);遗传关联研究(Genetic Association Studies);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);婴儿(Infant);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);突变(Mutation);核蛋白质类(Nuclear Proteins);系谱(Pedigree);表型(Phenotype);疾病严重程度指数(Severity of Illness Index)

DOI 10.1002/ajmg.a.37783

PMID 27282546

发布时间 2022-04-08

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BRAT1 mutations present with a spectrum of clinical severity.

American journal of medical genetics. Part A

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American journal of medical genetics. Part A

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BRAT1 mutations present with a spectrum of clinical severity.

American journal of medical genetics. Part A

相似文献

同项目论文

American journal of medical genetics. Part A

相关期刊

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