Phenotypic expansion illuminates multilocus pathogenic variation.

Karaca E., Karaca E., Posey J. E., Posey J., Akdemir Z. C., Coban A., ...Daha Fazla

Genetics in medicine : official journal of the American College of Medical Genetics, cilt.20, ss.1528-1537, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1038/gim.2018.33
  • Dergi Adı: Genetics in medicine : official journal of the American College of Medical Genetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1528-1537
  • Anahtar Kelimeler: distinct/overlapping blended phenotypes, multilocus variation, neurodevelopmental disorder, personal genomes, phenotypic expansion of Mendelizing disease traits, SPASTIC PARAPLEGIA, DE-NOVO, MUTATIONS, PROTEIN, GPR126, FAMILY, INDIVIDUALS, INHERITANCE, HYPOTONIA, DIAGNOSIS
  • İstanbul Üniversitesi Adresli: Hayır