Ling Yu Shih

The molecular basis of pyruvate carboxylase deficiency: Mosaicism correlates with prolonged survival

Dong Wang, Hong Yang, Kevin C. De Braganca et al. · Molecular Genetics and Metabolism · 2008 · 45 citations

Life Sciences, Genetics, Molecular Genetics +16

Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates

Barry Wolf, Kevin P. Jensen, Bruce A. Barshop et al. · Human Mutation · 2005 · 33 citations

Life Sciences, Biochemistry, Genetics +15

Familial pallister‐hall syndrome: Case report and hormonal evaluation

Irene N. Sills, Robert Rapaport, L. Pat Robinson et al. · American Journal of Medical Genetics · 1993 · 26 citations

Medicine, Endocrinology, Genetics +17

Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia

Joseph A. Samady, Robert A. Schwartz, Ling Yu Shih et al. · The Journal of Dermatology · 2000 · 23 citations

Medicine, Dermatology, Pediatrics +17

Gene dosage studies supporting localization of the structural gene for galactose‐1‐phosphate uridyl transferase (GALT) to band p13 of chromosome 9

Ling Yu Shih, Lorraine Suslak, Irit Rosin et al. · American Journal of Medical Genetics · 1984 · 22 citations

Life Sciences, Genetics, Molecular Genetics +13