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Publications by Amira Masri

Mutations in KEOPS-complex Genes Cause Nephrotic Syndrome With Primary Microcephaly

Nature Genetics
Genetics
2017English

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

American Journal of Human Genetics
Genetics
2015English

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