Publications by authors named "Berrada Sarah"

Synopsis of recent research by authors named "Berrada Sarah"

  • - Berrada Sarah's recent research primarily focuses on genetic mutations and their implications for rare syndromes, as evidenced by her studies on novel genetic variants related to syndromic conditions.
  • - In her 2023 publication, she explores a homozygous variant in the FREM1 gene linked to a unique phenotype that sits between two recognized syndromes, indicating a potential for phenotypic variability in genetic disorders.
  • - Her 2022 case report discusses an R306X mutation associated with atypical Rett Syndrome in a Moroccan patient, highlighting the broad phenotypic spectrum of Rett syndrome and its specific manifestations in different populations.

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