Vera Uliana

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon et al. · European Journal of Human Genetics · 2014 · 171 citations · Full text

Neurological Disorder, Clinical Neurology, Baraitser–winter Cerebrofrontofacial Syndrome +3

Private inherited microdeletion/microduplications: Implications in clinical practice

Maria Antonietta Mencarelli, Eleni Katzaki, Filomena Tiziana Papa et al. · European Journal of Medical Genetics · 2008 · 106 citations

Genetic Testing, Genetic Disorder, Genetics +3

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome

Elena Marcocci, Vera Uliana, Mirella Bruttini et al. · Nephrology Dialysis Transplantation · 2009 · 93 citations · Full text

A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita

Haihui Liao, Jane M. Sayers, Neil Wilson et al. · Journal of Dermatological Science · 2007 · 57 citations

Keratins K6a, Genetics, Pathogenesis +5

3q26.33–3q27.2 microdeletion: A new microdeletion syndrome?

Giorgia Mandrile, Anna Dubois, Jodi D. Hoffman et al. · European Journal of Medical Genetics · 2013 · 56 citations · Full text

New Microdeletion Syndrome, Genetic Disorder