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Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

  • Marcello Scala
  • , Geok Lin Chua
  • , Cheen Fei Chin
  • , Hessa S. Alsaif
  • , Artem Borovikov
  • , Saima Riazuddin
  • , Sheikh Riazuddin
  • , M. Chiara Manzini
  • , Mariasavina Severino
  • , Alvin Kuk
  • , Hao Fan
  • , Yalda Jamshidi
  • , Mehran Beiraghi Toosi
  • , Mohammad Doosti
  • , Ehsan Ghayoor Karimiani
  • , Vincenzo Salpietro
  • , Elena Dadali
  • , Galina Baydakova
  • , Fedor Konovalov
  • , Ekaterina Lozier
    • Emer O’Connor, Yasser Sabr, Abdullah Alfaifi, Farah Ashrafzadeh, Pasquale Striano, Federico Zara, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian, David L. Silver

Research output: Contribution to journal › Article › peer-review

34   Link opens in a new tab Scopus citations

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Biochemistry, Genetics and Molecular Biology

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