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Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome.
Sarasua, Sara M; Boccuto, Luigi; Sharp, Julia L; Dwivedi, Alka; Chen, Chin-Fu; Rollins, Jonathan D; Rogers, R Curtis; Phelan, Katy; DuPont, Barbara R.
Affiliation
  • Sarasua SM; Office of Bioinformatics and Epidemiology, Greenwood Genetic Center, 101 Gregor Mendel Circle, Greenwood, SC, 29646, USA, ssarasua@ggc.org.
Hum Genet ; 133(7): 847-59, 2014 Jul.
Article in En | MEDLINE | ID: mdl-24481935
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 22 / Chromosome Deletion / Chromosome Disorders Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Qualitative_research / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Hum Genet Year: 2014 Type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 22 / Chromosome Deletion / Chromosome Disorders Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Qualitative_research / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Hum Genet Year: 2014 Type: Article