Sami Bizzari

Single‐center experience of N‐linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs

Fatma Bastaki, Sami Bizzari, Sana Hamici et al. · Annals of Human Genetics · 2017 · 28 citations

United Arab Emirates, Genetics, Glycobiology +19

Expanded PCH1D phenotype linked to EXOSC9 mutation

Sami Bizzari, Abdul Rezzak Hamzeh, Madiha Mohamed et al. · European Journal of Medical Genetics · 2019 · 17 citations

Mendelian Disorder, Genetic Disorder, Genetics +4

Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database

Sami Bizzari, Pratibha Nair, Sayeeda Hana et al. · Frontiers in Genetics · 2023 · 14 citations · Full text

United Arab Emirates, Ctga Database, Genetics +27

Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI‐related genes from the United Arab Emirates

Fatma Bastaki, Madiha Mohamed, Pratibha Nair et al. · International Journal of Dermatology · 2017 · 12 citations

Novel SPG20 mutation in an extended family with Troyer syndrome

Sami Bizzari, Abdul Rezzak Hamzeh, Pratibha Nair et al. · Metabolic Brain Disease · 2017 · 12 citations

Genetic Disorder, Genetics, Pathology +5