Sofia Babay

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity

Yin Liu, Yuval Ramot, Antonio Torrelo et al. · Arthritis & Rheumatism · 2011 · 401 citations

Medicine, Dermatology, Genetics +17

H syndrome: The first 79 patients

Vered Molho‐Pessach, Yuval Ramot, Frances Camille et al. · Journal of the American Academy of Dermatology · 2013 · 164 citations

Medicine, Neurology, Hemostasis +1

Mutation in <i>KANK2</i> , encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair

Yuval Ramot, Vered Molho‐Pessach, Tomer Meir et al. · Journal of Medical Genetics · 2014 · 51 citations

Medicine, Dermatology, Genetics +17

H Syndrome: A Multifaceted Histiocytic Disorder with Hyperpigmentation and Hypertrichosis

Burak Tekin, Zeynep Atay, Tülin Ergun et al. · Acta Dermato Venereologica · 2015 · 27 citations · Full text

Medicine, Dermatology, Pathology +10

Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome

Vered Molho‐Pessach, Sivan Sheffer, Rula Siam et al. · Pediatric Dermatology · 2015 · 25 citations

Life Sciences, Cardiology, Genetics +17