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Gozde Yesil

Bezmialem Foundation University

Medicine
Phenotype
Pathology
Multiplex ligation-dependent probe amplification
Chromosome

4

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Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.

2021 American Journal of Medical Genetics Part A
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Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.

2021 European Journal of Medical Genetics
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