Patroula Smpokou

Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome

Patroula Smpokou, Erica Tworog‐Dube, Raju Kucherlapati et al. · American Journal of Medical Genetics Part A · 2012 · 90 citations

Developmental Anomaly, Clinical Disorders, Educational Outcomes +13

Noonan syndrome in diverse populations

Paul Kruszka, Antonio R. Porras, Yonit A. Addissie et al. · American Journal of Medical Genetics Part A · 2017 · 89 citations · Full text

PTEN hamartoma tumour syndrome: early tumour development in children

Patroula Smpokou, Victor L. Fox, Wen‐Hann Tan · Archives of Disease in Childhood · 2014 · 56 citations

FDA approval summary for lonafarnib (Zokinvy) for the treatment of Hutchinson-Gilford progeria syndrome and processing-deficient progeroid laminopathies

Mari Suzuki, Linda Jo Bone Jeng, Solomon Chefo et al. · Genetics in Medicine · 2022 · 45 citations

Hutchinson-gilford Progeria Syndrome, Pathology, Processing-deficient Progeroid Laminopathies +3

Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

Jamie L. Fraser, Adeline Vanderver, Sandra Yang et al. · Molecular Genetics and Metabolism Reports · 2014 · 36 citations · Full text