M. T. Zabot

Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation

Alexandre Bélot, Paul R. Kasher, Eleanor W. Trotter et al. · Arthritis & Rheumatism · 2013 · 198 citations · Full text

Life Sciences, Genetics, Immunology +17

Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes

Giuseppe Merla, Cédric Howald, Charlotte N. Henrichsen et al. · The American Journal of Human Genetics · 2006 · 182 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients

Christine Vianey‐Saban, P. Divry, M. Brivet et al. · Clinica Chimica Acta · 1998 · 157 citations

Life Sciences, Biochemistry, Molecular Biology +14

Adult neuronal ceroid lipofuscinosis with palmitoyl‐protein thioesterase deficiency: First adult‐onset patients of a childhood disease

Otto P. van Diggelen, Stéphane Thobois, Caroline Tilikete et al. · Annals of Neurology · 2001 · 117 citations

Life Sciences, Neurology, Neuroscience +17

Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency

Jochen Reiss, Nadine Cohen, C. Dorche et al. · Nature Genetics · 1998 · 114 citations

Life Sciences, Genetics, Molecular Genetics +7