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The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.
Mis, Emily K; Al-Ali, Samir; Ji, Weizhen; Spencer-Manzon, Michele; Konstantino, Monica; Khokha, Mustafa K; Jeffries, Lauren; Lakhani, Saquib A.
Affiliation
  • Mis EK; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Al-Ali S; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Ji W; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Spencer-Manzon M; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Konstantino M; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Khokha MK; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Jeffries L; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Lakhani SA; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Am J Med Genet A ; 182(10): 2291-2296, 2020 10.
Article in En | MEDLINE | ID: mdl-32812332
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Genetic Predisposition to Disease / Membrane Proteins / Nerve Tissue Proteins Type of study: Risk_factors_studies Limits: Child, preschool / Female / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: United States
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Genetic Predisposition to Disease / Membrane Proteins / Nerve Tissue Proteins Type of study: Risk_factors_studies Limits: Child, preschool / Female / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: United States