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  2. Details for: De novo variants in
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De novo variants in [electronic resource]

By:
  • Bina, Roya
Contributor(s):
  • Matalon, Dena
  • Fregeau, Brieana
  • Tarsitano, Jacqueline Joani
  • Aukrust, Ingvild
  • Houge, Gunnar
  • Bend, Renee
  • Warren, Hannah
  • Stevenson, Roger E
  • Stuurman, Kyra Eva
  • Barkovich, A James
  • Sherr, Elliott H
Producer: 20210621Description: 461-465 p. digitalISSN:
  • 1468-6244
Subject(s):
  • Adolescent
  • Agenesis of Corpus Callosum -- genetics
  • Brain -- diagnostic imaging
  • Cell Cycle Proteins -- genetics
  • Child
  • Child, Preschool
  • Corpus Callosum -- physiopathology
  • Exome -- genetics
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Intellectual Disability -- genetics
  • Male
  • Mutation, Missense -- genetics
  • Neurodevelopmental Disorders -- genetics
  • Seizures -- genetics
  • Transcription Factors -- genetics
  • Exome Sequencing
Online resources:
  • Available from publisher's website
In: Journal of medical genetics vol. 57
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Publication Type: Journal Article; Research Support, N.I.H., Extramural

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De novo variants in

APA

Bina R., Matalon D., Fregeau B., Tarsitano J. J., Aukrust I., Houge G., Bend R., Warren H., Stevenson R. E., Stuurman K. E., Barkovich A. J. & Sherr E. H. (20210621). De novo variants in. : Journal of medical genetics.

Chicago

Bina Roya, Matalon Dena, Fregeau Brieana, Tarsitano Jacqueline Joani, Aukrust Ingvild, Houge Gunnar, Bend Renee, Warren Hannah, Stevenson Roger E, Stuurman Kyra Eva, Barkovich A James and Sherr Elliott H. 20210621. De novo variants in. : Journal of medical genetics.

Harvard

Bina R., Matalon D., Fregeau B., Tarsitano J. J., Aukrust I., Houge G., Bend R., Warren H., Stevenson R. E., Stuurman K. E., Barkovich A. J. and Sherr E. H. (20210621). De novo variants in. : Journal of medical genetics.

MLA

Bina Roya, Matalon Dena, Fregeau Brieana, Tarsitano Jacqueline Joani, Aukrust Ingvild, Houge Gunnar, Bend Renee, Warren Hannah, Stevenson Roger E, Stuurman Kyra Eva, Barkovich A James and Sherr Elliott H. De novo variants in. : Journal of medical genetics. 20210621.

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