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Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.
Ballout, Rami A; Dickerson, Cheryl; Wick, Myra J; Al-Sweel, Najla; Openshaw, Amanda S; Srivastava, Siddharth; Swanson, Lindsay C; Bramswig, Nuria C; Kuechler, Alma; Hong, Bo; Fleming, Leah R; Curry, Kathryn; Robertson, Stephen P; Andersen, Erica F; El-Hattab, Ayman W.
Affiliation
  • Ballout RA; Lipoprotein Metabolism Section, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland.
  • Dickerson C; Faculty of Medicine, American University of Beirut, Beirut, Lebanon.
  • Wick MJ; WakeMed Physician Practices, Maternal-Fetal Medicine, Raleigh, North Carolina.
  • Al-Sweel N; Departments of Obstetrics and Gynecology and Clinical Genomics, Mayo Clinic, Rochester, Minnesota.
  • Openshaw AS; Department of Pathology, University of Utah, Salt Lake City, Utah.
  • Srivastava S; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, Utah.
  • Swanson LC; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, Utah.
  • Bramswig NC; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Kuechler A; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Hong B; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Fleming LR; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Curry K; Department of Pathology, University of Utah, Salt Lake City, Utah.
  • Robertson SP; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, Utah.
  • Andersen EF; St. Luke's Children's Genetics and Metabolic Clinic, Boise, Idaho.
  • El-Hattab AW; St. Luke's Children's Genetics and Metabolic Clinic, Boise, Idaho.
Hum Mutat ; 41(7): 1238-1249, 2020 07.
Article in En | MEDLINE | ID: mdl-32112660
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Diseases, X-Linked / Chromosome Duplication / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Country of publication:
Fulltext
Add to My VHL
Print
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Diseases, X-Linked / Chromosome Duplication / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Country of publication: