Research output

  1. TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

    Research output: Contribution to journal › Article

  2. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

    Research output: Contribution to journal › Article

  3. Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics (vol 142, pg 867, 2019)

    Research output: Contribution to journal › Article

View all (9) »

Activities

  1. Concurrent Session C17.2 Rotatin mutations impair bipolar mitotic spindle formation leading to a wide spectrum of brain malformations.

    Activity: Talk or presentation › Talk or presentation at a conference

  2. Rotatin mutations impair bipolar mitotic spindle formation leading to a wide spectrum of brain malformations

    Activity: Talk or presentation › Talk or presentation at a conference

  3. Rotatin mutations impair normal centrosome amplification and bipolar mitotic spindle formation

    Activity: Talk or presentation › Talk or presentation at a workshop/seminar

View all (6) »

Prizes

  1. Young Investigator Award for Outstanding Science

    Prize: Prize (including medals and awards)

View all (1) »

ID: 165573