Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study.-论文-万方医学网

第一作者： Merlin G,Butler

第一单位： Departments of Psychiatry, Behavior Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, USA.

作者： Merlin G,Butler ^[1] ; Samantha N,Hartin ^[1] ; Waheeda A,Hossain ^[1] ; Ann M,Manzardo ^[1] ; Virginia,Kimonis ^[2] ; Elisabeth,Dykens ^[3] ; June Anne,Gold ^[4] ; Soo-Jeong,Kim ^[5] ; Nicolette,Weisensel ^[6] ; Roy,Tamura ^[7] ; Jennifer L,Miller ^[8] ; Daniel J,Driscoll ^[8]

作者单位： Departments of Psychiatry, Behavior Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, USA. ^[1] Department of Pediatrics, University of California-Irvine, Irvine, California, USA. ^[2] Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, Tennessee, USA. ^[3] Department of Pediatrics, Loma-Linda University, Loma-Linda, California, USA. ^[4] Department of Psychiatry and Behavioral Science, University of Washington School of Medicine, Seattle, Washington, USA. ^[5] College of Arts, Sciences and Letters, Marian University, Fond du Lac, Wisconsin, USA. ^[6] Health Informatics Institute, University of South Florida, Tampa, Florida, USA. ^[7] Department of Pediatrics, University of Florida School of Medicine, Gainesville, Florida, USA. ^[8]

主题词青少年(Adolescent);成年人(Adult);儿童(Child);儿童, 学龄前(Child, Preschool);染色体缺失(Chromosome Deletion);染色体, 人, 15对(Chromosomes, Human, Pair 15);队列研究(Cohort Studies);DNA拷贝数变异(DNA Copy Number Variations);女(雌)性(Female);遗传关联研究(Genetic Association Studies);遗传标记(Genetic Markers);疾病遗传易感性(Genetic Predisposition to Disease);基因检测(Genetic Testing);人类(Humans);婴儿(Infant);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);多态性, 单核苷酸(Polymorphism, Single Nucleotide);Prader-Willi综合征(Prader-Willi Syndrome);青年人(Young Adult)

DOI 10.1136/jmedgenet-2018-105301

PMID 29730598

发布时间 2020-07-30

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Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study.

Journal of medical genetics

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Journal of medical genetics

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Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study.

Journal of medical genetics

相似文献

Journal of medical genetics

相关期刊

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