Rare Disease Foundation

Patient partner compensation in research and health care: the patient perspective on why and how

Dawn P. Richards, Isabel Jordán, Kimberly Strain et al. · Patient Experience Journal · 2018 · 117 citations · Full text

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

Keith W. McLarren, Tesa Severson, Christèle du Souich et al. · The American Journal of Human Genetics · 2010 · 74 citations · Full text

Mendelian Disorder, Autoimmune Disease, Disease Mechanism +6

Dental Abnormalities in Schimke Immuno-osseous Dysplasia

Marie Morimoto, Olivia Kérourédan, M. Gendronneau et al. · Journal of Dental Research · 2012 · 41 citations · Full text

Genetics, Pathology, Oral Medicine +17

Characterization of a new X‐linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

Christèle du Souich, Athena Chou, Jingyi Yin et al. · American Journal of Medical Genetics Part A · 2009 · 32 citations

Brain Development, Neurological Disorder, Genetics +24

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Marie Morimoto, Zhongxin Yu, Peter Stenzel et al. · Orphanet Journal of Rare Diseases · 2012 · 32 citations · Full text