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X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further ..
Displaying the most recent project by Yan Wang.
Displaying the 26 most recent scholarly works by Yan Wang.
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations
Judith Savige, Helen Storey, Hae Il Cheong, Hee Gyung Kang, Eujin Park, Pascale Hilbert, Anton Persikov, Carmen Torres-Fernandez, Elisabet Ars, Roser Torra, Jens Michael Hertz, Mads Thomassen, Lev Shagam, Dongmao Wang, Yanyan Wang, Frances Flinter, Mato Nagel
Journal article | 2016 | PLOS ONE
Retinal Basement Membrane Abnormalities and the Retinopathy of Alport Syndrome
Judy Savige, John Liu, Delia Cabrera Debuc, James T Handa, Gregory S Hageman, Yan Yan Wang, John D Parkin, Brendan Vote, Rob Fassett, Shirley Sarks, Deb Colville
Journal article | 2010 | Investigative Ophthalmology and Visual Science
Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome.
Hayat Dagher, Yan Yan Wang, Rob Fassett, Judy Savige
Journal article | 2002 | Human Mutation
Autosomal recessive Alport syndrome is caused by mutations in the COL4A3 and COL4A4 genes which code for the alpha3 and alpha4 cha..
Medicine - Royal Melbourne Hospital
Master of Medicine
Beijing Medical University
Doctor of Philosophy